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First and second edition authors:

Christine Budd
Mark Gardiner
David Pang
Tim Newson
Contents

Third Edition

Paediatrics
Series editor
Daniel Horton-Szar
BSc (Hons), MBBS (Hons), MRCGP
Northgate Medical Practice
Canterbury
Kent, UK

Faculty advisor
Tim Newson
B Med Sci, BMBS, MRCP (UK), MRCPCH
Consultant Paediatrician
Kent & Canterbury Hospital
Kent, UK

Shyam Bhakthavalsala
MBBS, MRCPCH
Specialist Registrar, William Harvey Hospital, Ashford, Kent, UK

Edinburgh London New York Oxford Philadelphia St Louis Sydney Toronto 2008
Commissioning Editor Alison Taylor
Development Editor Kim Benson
Project Manager Nancy Arnott
Page design Sarah Russell
Icon illustrations Geo Parkin
Cover design Stewart Larking
Illustration management Merlyn Harvey
1999, Mosby International Limited.
2004, Elsevier Limited.
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Contents

Preface

This new edition of Crash Course in Paediatrics has kept the same successful
format of previous editions. We have updated chapters with important
developments in paediatrics since the last edition. There is an extended self
assessment section. There has been an adaptation of the hints and tips boxes
which highlight points that can assume great importance in clinical practice, to
hopefully enhance their relevance. This remains a text that emphasizes the
practical aspects of paediatrics and will be invaluable to aid students on paediatric
attachments to clinical areas.
This book has been written for the undergraduate but its format and practical
emphasis means it will be of use for doctors on a paediatric attachment in their
foundation years or at the beginning of their careers in paediatrics either in
hospital or community.
Tim Newson
Shyam Bhakthavalsala

More than a decade has now passed since work began on the rst editions of the
Crash Course series, and over four years since the publication of the second
editions. Medicine never stands still, and the work of keeping this series relevant
for todays students is an ongoing process. These third editions build upon the
success of the preceding books and incorporate a great deal of new and revised
material, keeping the series up to date with the latest medical research and
developments in pharmacology and current best practice.
As always, we listen to feedback from the thousands of students who use Crash
Course and have made further improvements to the layout and structure of the
books. Each chapter now starts with a set of learning objectives, and the self-
assessment sections have been enhanced and brought up to date with modern
exam formats. We have also worked to integrate material on communication
skills and gems of clinical wisdom from practising doctors. This will not only add
to the interest of the text but will reinforce the principles being described.
Despite fully revising the books, we hold fast to the principles on which we rst
developed the series: Crash Course will always bring you all the information you
need to revise in compact, manageable volumes that integrate pathology and
therapeutics with best clinical practice. The books still maintain the balance
between clarity and conciseness, and provide sufcient depth for those aiming at
distinction. The authors are junior doctors who have recent experience of the
exams you are now facing, and the accuracy of the material is checked by senior
clinicians and faculty members from across the UK.
I wish you all the best for your future careers!
Dr Dan Horton-Szar
Series Editor

v
Glossary

Acute epiglottitis life threatening emergency, Chronic lung disease of prematurity Preterm
caused by infection with H. inuenzae leading infant needing oxygen beyond 36 weeks
to inammation of the epiglottis and upper corrected gestation or beyond 28 days of age.
airway obstruction. Congenital adrenal hyperplasia a group of
Acute glomerulonephritis acute inammation of disorders caused by a defect in the pathway
the glomeruli leading to uid retention, that synthesizes cortisol from cholesterol,
hypertension, haematuria and proteinuria. often presenting with female virilization, salt
wasting and cortisol deciency.
Acute otitis media an acute inammation of the
middle ear due to a viral or bacterial Craniosynostosis premature fusion of the cranial
infection. sutures.
Apnoea of prematurity episodes of apnoea seen Croup acute inammation of the upper airways
in preterm infants due to immaturity of the (larynx, trachea and bronchi) most
respiratory centre. commonly caused by parainuenza virus.
Cushing syndrome syndrome caused by
Attention decit hyperactivity disorder a
glucocorticoid excess either due to exogenous
condition characterized by lack of attention
replacement or endogenous overproduction,
beyond normal for the childs age,
characterized by short stature, truncal
hyperactivity and impulsiveness.
obesity, skin striae and hypertension.
Autistic spectrum disorder a range of conditions
Developmental dysplasia of the hip progressive
usually with onset earlier than 3 years,
malformation of the hip joint leading to
characterized by impaired social interaction,
varying degrees of actebular dysplasia and
impaired communication and a restricted
dislocation of the femoral head; previously
pattern of behaviour.
known as congenital dislocation of the hip.
Breath holding attacks episodes characterized
Exomphalos abdominal contents herniate
by a screaming infant or toddler holding
through the umbilical ring, covered in a sac
his/her breath in expiration, goes blue and
formed by the peritoneum and amniotic
limp for a few seconds followed by rapid
membrane.
recovery.
Febrile t seizure episode associated with fever in
Bronchiolitis acute inammation leading to a child between 6 months and 6 years of age
narrowing of the bronchioles and lower in the absence of intracranial infection or
airways, most commonly caused by any other neurological disorder.
respiratory syncytial virus.
Gastroschisis a developmental defect of the
Caput succedaneum diffuse swelling of the scalp abdomen where whole or part of the bowel
in a neonate that crosses the suture lines, and viscera, without a covering sac, protrude
caused by oedema. through a defect in the abdomen adjacent to
Cephalhaematoma subperiosteal haemorrhage the umbilicus.
into the scalp bones in a neonate, usually Gillick principle a child under 16 years of age can
associated with birth trauma. give consent for a treatment if he or she is of
Cerebral palsy a disorder of motor function due sufcient understanding to make an
to a non-progressive lesion of the developing informed decision and does not wish the
brain; the manifestations may evolve as the parent to be asked.
child grows, although the lesion itself Global developmental delay a signicant delay in
remains the same. two or more developmental domains.

xi
Glossary

GuillainBarr syndrome acute demyelinating Low birth weight weight less than 2500 g.
polyneuropathy, often following a viral or Muscular dystrophies group of disorders
bacterial infection, typically characterized by characterized by progressive degeneration of
hyporeexia and an ascending paralysis. muscle in the absence of any storage material.
Haemolytic uraemic syndrome clinical syndrome Necrotizing enterocolitis inammation and
caused by verocytotoxin producing E. coli necrosis of the intestine, commonly seen in
O157:H7, resulting in microangiopathic preterm infants and often predisposed by
haemolytic anaemia, thrombocytopenia and early and rapid introduction of formula feeds.
renal failure.
Neonatal encephalopathy a combination of
Haemophilia A X-linked recessive coagulation abnormal consciousness, tone and reexes,
disorder due to reduced or absent factor respirations, feeding and seizures in the early
VIII. neonatal period due to various reasons, not
Haemophilia B X-linked recessive disorder of necessarily from intrapartum asphyxia.
coagulation caused by deciency of factor IX. Neonatal screening this is done by the neonatal
HenochSchnlein purpura a multisystem spot blood test, screening for
vasculitis of small blood vessels, affecting phenylketonuria, hypothyroidism, cystic
skin, kidneys, joints and the gastrointestinal brosis, MCADD deciency and certain
tract. haemolytic anaemias.
Idiopathic thrombocytopenic purpura immune Nephrotic syndrome clinical condition
mediated destruction of platelets leading to characterized by proteinuria,
thrombocytopenia, for which no other cause hypoalbuminaemia and oedema.
is evident. Neural tube defect range of conditions caused by
Inborn errors of metabolism any inherited a failure of fusion of the neural plate,
disorder that results from a defect in the resulting in defects of the vertebra and/or the
normal biochemical pathways. spinal cord.
Infantile colic recurrent episodes of inconsolable Neurodegenerative disease disorders of the
crying of unknown aetiology, often central nervous system characterized by
accompanied by drawing up of the legs, seen delayed development and a loss of acquired
in the rst few months of life. skills (developmental regression).
Infantile spasms (West syndrome) a rare kind of Nocturnal enuresis involuntary voiding of urine
epilepsy which has its onset in late infancy during sleep beyond 5 years of age.
and is characterized by myoclonic spasms Otitis media with effusion (OME) persistent uid
and a typical EEG (hypsarrhythmia). in the middle ear due to recurrent middle ear
Irritable hip transient inammation of the lining infections or poor Eustachian tube ventilation.
of the hip joint (transient synovitis), usually Patent ductus arteriosus a vessel connecting the
following a viral infection. aorta to the left pulmonary vein, that usually
Juvenile idiopathic arthritis arthritis involving closes a few hours after birth.
one or more joints in a child, persisting for Persistent fetal circulation high pulmonary
more than 6 weeks after excluding other vascular resistance leading to right to left
causes; previously known as juvenile chronic shunt across the duct and at the atrial level,
arthritis/juvenile rheumatoid arthritis. in the absence of any other congenital heart
Kawasaki disease a systemic vasculitis causing defect.
fever, redness of eyes, lymphadenopathy, Physiological jaundice of the newborn jaundice
mucosal involvement and rash with a occurring between 2 and 14 days of life, in a
potential for late coronary aneurysms. term infant characterized by predominantly
LeggCalvePerthes disease idiopathic avascular unconjugated hyperbilirubinaemia and a
osteonecrosis of the femoral head seen in total bilirubin less that 350 mol/L, in the
children between 3 and 12 years of age. absence of other causes.

xii
Glossary

Preterm less than 37 completed weeks gestation. Small for gestational age Birth weight less than
Pyelonephritis infection of the upper urinary 10th centile for gestational age.
tract involving the renal pelvis. Stills disease a systemic variant of
Pyrexia of unknown origin documented juvenile rheumatoid arthritis
protracted fever for more than 7 days without characterized by high fever, typical rash,
a diagnosis despite initial investigations. lymphadenopathy, hepatosplenomegaly and
serositis.
Reex anoxic seizures episodes, usually provoked
by pain, where an infant or toddler turns Stridor predominantly inspiratory noise due to
pale and loses consciousness, sometimes narrowing of the extrathoracic airways.
associated with a few jerky movements Tetralogy of Fallot cyanotic congenital heart
followed by rapid recovery. disease characterized by a large VSD,
Respiratory distress syndrome respiratory distress, pulmonary stenosis, overriding of the aorta
usually in a preterm infant, due to surfactant and right ventricular hypertrophy.
deciency. Thalassaemia a group of haemolytic anaemias
Retinopathy of prematurity abnormal vascular characterized by defective globin chain
proliferation of the retina occurring in synthesis.
preterm infants in response to various Transient tachypnoea of the newborn a transient
injuries, especially hyperoxia. condition characterized by tachypnoea and
School refusal an unwillingness to attend school, respiratory distress due to delayed
usually due to separation anxiety, stressors reabsorption of lung uid.
like bullying or adverse life events; these Transposition of great arteries cyanotic
children usually tend to be good congenital heart disease where the aorta
academically, but oppositional at home. arises from the right ventricle and the
Short stature a height below 0.4th centile for age. pulmonary artery arises from the left
Slipped upper femoral epiphysis uncommon ventricle, usually associated with an ASD,
condition characterized by progressive VSD or a PDA.
slippage of the femoral head from the neck at Wheeze predominantly expiratory noise
the epiphysis, most commonly seen in obese due to obstruction of the intrathoracic
teenagers. airways.

xiii
Fever or rash 1
Objectives

At the end of this chapter, you should be able to


Assess a child with fever.
Understand the common types of rash in children.
Identify the warning signs in a child with fever and rash.
Learn a systematic approach to a child with petechial rash.

Headache, photophobia and neck pain: suggest


THE FEBRILE CHILD meningism.

Fever is a common presenting symptom in children Younger children (<2 years of age) might not
and can be a major challenge to paediatricians. Most localize symptoms and fever might be the only
of the causes are due to benign, self-limiting, viral symptom.
infections but skill is needed to distinguish these
from serious infection (Fig. 1.1). The latter has the Has there been recent foreign travel?
potential to deteriorate rapidly so it is essential that Malaria or typhoid can be overlooked if recent travel
it is identied as early as possible. abroad is not disclosed in the history.
Fever is dened as a central temperature of
greater than 38C. Electronic tympanic membrane Examination
thermometers correlate moderately well with rectal
temperature and are adequate for most practical Is the child systemically unwell?
purposes. The active, playing and communicative child is
unlikely to have sepsis. However, any ill child must
History have an assessment of the airway, breathing and
circulation, and of the vital signs. Clues to serious
How long has the child been febrile?
sepsis include (see Fig. 1.7):
A duration of more than a week or two suggests
diseases such as tuberculosis (TB), malaria, typhoid Poor peripheral perfusion.
and autoimmune non-infectious disorders. Persistent tachycardia.
Lethargy or irritability.
Are there any localizing symptoms?
An infection in certain systems will advertise itself:
Cough or coryza: suggest respiratory tract
infection. Assume sepsis in all febrile infants aged
Vomiting and diarrhoea: suggest gastrointestinal <3 months until proved otherwise.
tract infection, although vomiting alone is
non-specic.
A painful limb: suggests infection of the bones
or joints. Are there local signs of infection?
Lower abdominal pain: suggests urine infection Tonsillitis, otitis media, pneumonia, meningitis and
but lobar pneumonia can also present this way. septic arthritis can all be revealed on examination

3
Fever or rash

child, however, they cannot rule out serious


Common causes of a fever
infection.
Minor illnesses Major illnesses

Upper respiratory infection Meningitis

Non-specific viral infections Pneumonia


and rashes A seriously ill child might initially have
normal blood inammatory markers.
Gastroenteritis without Urinary tract infection
dehydration Septicaemia

Fig. 1.1 Common causes of a fever. Samples for microbiological examination:


blood cultures, urine for microscopy and
culture, throat swab and cerebrospinal uid.
Polymerase chain reaction (PCR) is becoming
increasingly useful as it provides high sensitivity
Meningitis and specicity.
Otitis media Imaging: a chest X-ray (CXR) should be
Acute tonsillitis considered if there is any suspicion of lower
respiratory tract infection.
Pneumonia A septic screen; infants suspected of severe
infection without localizing signs on
examination are investigated with a standard
Urinary tract
infection battery of investigations before starting
antibiotic therapy. These include: blood culture,
full blood count (FBC), CRP, lumbar puncture,
urine sampling and CXR.
Septic arthritis
Aide-mmoire to identify serious sepsis
ILLNESSIrritability, Lethargy, Low capillary rell,
Neutropenia or neutrophilia, Elevated or low tem-
perature suggests Serious Sepsis.

Management
Fig. 1.2 Fever: important sites of local bacterial infection.
If a benign viral infection is suspected then only
symptomatic therapy is needed. In the very young,
or those who look ill, antibiotics are started before
(Fig. 1.2); a rash might be diagnostic. Look for a
the results of diagnostic testing because quickly
bulging fontanelle in meningitis.
ruling out serious infection is often impossible;
treatment can be tailored when the results are back.
Investigations
Treating the fever with antipyretics might reduce
In a well child in whom a condent clinical diagno- febrile convulsions.
sis has been possible, no investigation is required.
However, certain investigations are appropriate in Pyrexia of unknown origin (PUO)
any ill febrile child. These include:
The designation PUO should be reserved for a child
Markers of inammation: white cell count with a documented protracted fever (more than 7
(raised or low in overwhelming sepsis), days) and no diagnosis despite initial investigation
differential (neutrophil predominance in (Fig. 1.3). It is frequently misapplied to any child
bacterial infection) and C-reactive protein. presenting with a fever of which the cause is
These are useful if there is uncertainty in not immediately obvious. Most are infectious and
diagnosis or for serial measurement of a septic 4060% will resolve without diagnosis. Particular

4
The child with a rash 1

Type Cause
Examination
Check for non-dermatological features such as:
Infective Pyelonephritis
Osteomyelitis Fever.
Abscesses
Endocarditis Mucous membranes.
Tuberculosis Lymphadenopathy.
Typhoid
CMV
Splenomegaly.
HIV Arthropathy.
Hepatitis
Malaria Describe the rash in dermatological language,
Inflammatory Kawasaki disease observing the morphology, arrangement and distri-
Rheumatoid arthritis
Crohn disease
bution of the lesions.
Malignancy Leukaemia, lymphoma
Factitious fever Only recorded by patient
Morphology
Describe the shape, size and colour of the lesions.
Fig. 1.3 Causes of pyrexia of unknown origin (PUO).
There might be:
Macules, papules or nodules.
Vesicles, pustules or bullae.
patterns of fever and response to treatment can Petechiae, purpura or ecchymoses.
be helpful in making important diagnosis (e.g,
Kawasaki disease, juvenile chronic arthritis). Arrangement
Are the lesions scattered diffusely, well circum-
scribed or conuent?
THE CHILD WITH A RASH
Distribution
Children often present with a rash that might, or The distribution is important (Fig. 1.4). It can be
might not, be associated with systemic signs. An local or generalized (exor surfaces: eczema; ex-
exact diagnosis is often not possible but a few rashes tensor surfaces: HenochSchnlein purpura (HSP)
are associated with serious systemic disease. Careful or psoriasis) or might involve mucous membranes
clinical history and examination are again essential (measles, Kawasaki disease, StevensJohnson
and investigation is reserved only for certain cases. syndrome).

History
The history of a rash should ascertain the
following: It is important to note the distribution as
Duration, site of onset, evolution and spread. well as the morphology of a rash.
Does it come and go (e.g. urticaria)?
Does the rash itch (e.g. eczema, scabies)?
Has there been any recent drug ingestion or Palpation
exposure to provocative agents (e.g. sunlight, Feel the rash for scale, thickness, texture and tem-
food, allergens, detergents)? perature; dry skin suggests eczema.
Are any other family members or contacts
affected (e.g. viral exanthems, infestations; see Investigations
Chapter 10)?
Investigations are rarely required but might include
Are there any other associated symptoms
skin scrapings for fungi or scabies.
(e.g. sore throat, upper respiratory tract
infection)?
Is there any family history (e.g. atopy,
Causes of a rash
psoriasis)? The main causative categories are shown in Fig. 1.5.

5
Fever or rash

Measles: prodrome of fever, coryza and cough.


Scalp and behind ears Just before the rash appears, Kopliks spots
Seborrhoeic dermatitis
Eczema Mucous membranes appear in the mouth. The rash tends to coalesce.
Psoriasis Measles Rubella: discrete, pink macular rash starting on
Fungal Kawasaki disease
StevensJohnson syndrome the scalp and face. Occipital and cervical
Herpes lymphadenopathy might precede the rash.
Trunk Roseola infantum: occurs in infants under 3
Viral exanthems years. After 3 days of sustained fever, a pink
Molluscum
contagiosum
morbilliform (measles-like) eruption appears as
Flexor surfaces
Eczema the temperature subsides. It is caused by human
herpesvirus (HHV)-6 or HHV-7.
Web spaces Nails Enteroviral infection: causes a generalized,
Fungal infections
Scabies
Psoriasis
pleomorphic rash and produces a mild fever.
Glandular fever: symptoms include malaise,
Extensor surfaces fever and exudative tonsillitis.
Psoriasis
HenochSchnlein Lymphadenopathy and splenomegaly are
Shin purpura commonly found.
Erythema nodosum
Kawasaki disease: causes a protracted fever,
generalized rash, red lips, lymphadenopathy
and conjunctival inammation.
Fig. 1.4 Distribution of rashes.
Scarlet fever: causes fever and sore throat. The
rash starts on the face and can include a
strawberry tongue.
Causes of a rash
Vesicular rash
Type Cause
Common causes of vesicular rash are:
Infection Viral
Toxin related Chickenpox: successive crops of papulovesicles
Streptococcal on an erythematous base; the vesicles become
Meningococcal
encrusted. Lesions present at different stages.
Infestations Scabies The mucous membranes are involved.
Dermatitis Eczema
Eczema herpeticum: exacerbation of eczema
Vasculitis with vesicular spots caused by a herpes
infection.
Allergy Drug-related
Urticaria
Haemorrhagic rash
Haematological Bleeding disorders
Due to extravasated blood these lesions do not
Fig. 1.5 Causes of a rash. blanch on pressure. Lesions are classied by size:
Petechiae (smallest).
Purpura.
Diagnostic features of the more Ecchymoses (largest).
common generalized rashes Common diagnostic features are:
The common generalized rashes are: maculopapular Meningococcal septicaemia: petechial or
rash, vesicular rash, haemorrhagic rash and urticar- purpuric rash (might be preceded by
ial rash. maculopapular rash).
Acute leukaemia: look for pallor and
Maculopapular rash hepatosplenomegaly.
This is most likely to be caused by a viral exanthem Idiopathic thrombocytopenic purpura: the child
but might be a drug-induced eruption. Common looks well but might have petechial rash with,
diagnostic features are: or without, nose bleeds.

6
The child with fever and petechial rash 1

HenochSchnlein purpura: distribution is


usually on the legs and buttocks. Arthralgia and THE CHILD WITH FEVER AND
abdominal pain might be present. PETECHIAL RASH
Bleeding disorders : haemophilia, Von
Willebrand disease and EhlersDanlos usually The most important differential diagnosis in this
present with easy bruising and prolonged common scenario is serious sepsis especially
bleeding following trivial trauma. meningococcal disease which requires immediate
treatment.
Take care to think of child abuse in traumatic
However there are many other important causes
bruising.
of fever and petechiae including:
Infections: viral infections (enteroviruses and
inuenza); meningococcal disease; bacteraemia
with Streptococcus pneumoniae and Haemophilus
Non-blanching or rapidly spreading rash inuenzae.
suggests meningococcal sepsis. Other diseases: HenochSchnlein purpura,
ITP, acute leukaemia.
Mechanical causes: trauma; forceful coughing/
vomiting with petechiae seen in the distribution
Urticarial rash of the SVCface and neck; non-accidental
injury.
Urticaria (hives), a transient, itchy rash character-
ized by raised weals, appears rapidly and fades; it The majority of children presenting with fever and
can recur. Causes include: petechiae do not have serious sepsis. Figure 1.6
shows an algorithm that is useful in identifying
Food allergy, e.g. shellsh, eggs, cows milk. serious sepsis.
Drug allergy, e.g. penicillin: note that <10% of
penicillin allergies are unsubstantiated. Indicators of serious sepsis
Infections, e.g. viral: this is the most common (see Fig. 1.7)
and is often self-limiting.
Contact allergy, e.g. plants, grasses, animal Unwell child: tachycardia, tachypnoea, cold
hair. extremities, poor capillary rell, irritability,
lethargy.
Two other distinctive rashes that occur in childhood Purpura >2 mm and spreading.
and require special consideration are erythema Abnormal blood results WCC <5 or >20;
multiforme and erythema nodosum. neutrophilia or neutropenia; high CRP.

Erythema multiforme Management of early


A distinctive, symmetrical rash characterized by
meningococcal
annular target (iris) lesions and various other lesions disease/septicaemia
including macules, papules and bullae. The severe Principles of management are:
form with mucous membrane involvement is
StevensJohnson syndrome. Causes include infec- Oxygen, obtaining good venous access,
tions (most commonly herpes simplex, mycoplasma immediate administration of uid resuscitation,
or EpsteinBarr virus) and drugs. Mostly it is idio- administration of a third generation
pathic and self limiting. cephalosporin (cefotaxime 50 mg/kg or
ceftriaxone 80 mg/kg), early senior intensive
care input.
Erythema nodosum Investigations: full blood count, blood culture,
Red, tender, nodular lesions usually occur on the coagulation screen, meningococcal PCR, C
shins. Important causes include streptococcal infec- reactive protein, renal function, liver function
tions and TB. and throat swab.

7
Fever or rash

Fig. 1.6 Algorithm for clinical


decision making in child presenting
with fever and petechiae. Fever and petechial rash

Purpura (>2mm or spreading)

Yes No

Treat as serious sepsis Yes Unwell: tachycardia, tachypnoea,


[meningoccocal disease] cold extremities, poor capillary refill

No

Yes Mechanical cause? (SVC distribution,


Treat the cause
h/o cough / vomiting / local trauma)

No

Admit and observe; check blood count,


CRP, coagulation screen,
blood culture, PCR

Yes
Rash progressing?

No
Yes
Treat the cause Abnormal blood results

No

Senior review; if bloods normal and


remains well after 6 hours observation,
consider discharge

Worrying signs of serious bacterial sepsis


Further reading
Brogan PR, Rafes A. The management of
All children less than 3 months old fever and petechiae: making sense of rash decisions.
Bulging fontanelle Archives of Disease in Childhood 2000; 83:
White cell count greater than 20 109/L or less than 506507.
4 109/L
Presence of shock
Hart CA, Thompson APJ. Meningococcal disease and its
Decreased conscious level or lethargy management in children. British Medical Journal 2006;
Persistent tachycardia 333:685690.
Apnoea
Non-blanching rash

Fig. 1.7 Worrying signs of serious bacterial sepsis.

8
Heart, lung or 2
ENT problems
Objectives

At the end of this chapter, you should be able to


Understand common cardiac and respiratory symptoms and signs.
Evaluate a child with a murmur.
Identify respiratory distress in a child.
Differentiate stridor from wheeze.
Understand common upper airway symptoms.

HEART

Congenital heart malformations account for most of Rapid weight gain is an early sign of
the cardiovascular disease seen in paediatric prac- cardiac failure in infants.
tice. Rare causes include rheumatic fever, viral myo-
carditis or pericarditis, and arrhythmias. Kawasaki
disease is now the leading cause of acquired
heart disease in children in the developed world.
Heart disease presents in a limited number of ways:
Examination
The major physical signs are:
An abnormality detected on prenatal
ultrasound. Cyanosis.
A murmur noted on routine examination in an Murmurs.
asymptomatic infant or child. Signs of cardiac failure.
Arrhythmia and/or syncope.
Sudden collapse. Cyanosis
Cardiac failure with or without low cardiac
Several varieties of congenital heart disease might
output.
present with central cyanosis (a blue baby) at, or
soon after, birth. Central cyanosis is visible if the
History concentration of deoxygenated haemoglobin (Hb)
in the blood exceeds 5 g/dL. Peripheral cyanosis
Cardiac symptoms include:
blueness of the hands and feet (due to a sluggish
Poor feeding, cough and difculty breathing peripheral circulation)is a normal nding in
cardiac failure in babies. babies who are cold, crying or unwell from some
Syncope: caused by arrhythmias and on rare non-cardiac cause.
occasions by severe aortic stenosis (AS). Central cyanosis due to congenital heart disease
Older children might describe palpitations. is distinguished from that due to respiratory disease
Recurrent chest infections. by the failure of right radial artery pO2 to rise
Failure to thrive. above 15 kPa after breathing 100% O2 for 10 min.
Rapid weight gain from oedema. Differential cyanosis in the limbs indicates the

9
Heart, lung or ENT problems

Aorta arising PA arising Over-riding aorta


from RV from LV

Pulmonary
stenosis

Right to left
shunt
PDA
ASD or VSD
allow mixing

Large VSD

Right ventricular
hypertrophy
Fig. 2.1 Transposition of the great arteries. There has to be
mixing between the two circulations to be compatible with
life. As the foramen ovale and the ductus arteriosus begin to
close, progressive cyanosis develops. Fig. 2.2 Tetralogy of Fallot: the stenosis of the pulmonary
valve causes resistance to ow and shunting of blood
through the large ventricular septal defect.

presence of right to left shunting across the ductus


arteriosus. elds are apparent on CXR, e.g. Fallots
tetralogy (Fig. 2.2).
Causes
In most patients, there is an abnormality that allows Murmurs
a portion of the systemic venous return to bypass
Cardiac murmurs are common in children of all
the lungs and enter the systemic circulation directly
ages. The majority of these are not associated with
(i.e. a right to left shunt). These can be classied
pathology (innocent murmurs) and clinical exami-
as:
nation will allow most to be distinguished from
1. Lesions with abnormal mixing: desaturated structural cardiac disease.
systemic venous blood is mixed with
Evaluation of a murmur
oxygenated pulmonary venous blood so that
A murmur is merely one component of the informa-
the blood discharged into the systemic
tion obtained by examination of the cardiovascular
circulation is not fully saturated. Pulmonary
system and cannot be interpreted in isolation.
vascularity is increased and pulmonary plethora
Important features of a murmur include the:
is apparent on chest X-ray (CXR), e.g.
transposition of the great arteries (TGA) Timing: is it systolic or diastolic? (most
(Fig. 2.1). murmurs in children are systolic; diastolic
2. Lesions with inadequate pulmonary blood ow: murmurs are rare and always pathological).
these infants often have right outow tract Character: is it pansystolic or ejection systolic?
obstruction and depend on blood owing to Loudness: this is graded out of 6; grade 4 and
the lungs from left to right across a patent above can be palpated (thrill).
ductus arteriosus (PDA). Severe cyanosis Radiation: a murmur that radiates from its site
develops when the duct closes, pulmonary of maximal loudness is more likely to be
vascularity is diminished and oligaemic lung signicant.

10
Heart 2

Innocent murmurs

Pallor and sweating


The hallmarks of an innocent murmur
are:
An asymptomatic child.
A normal cardiovascular examination including Tachycardia

normal heart sounds. Tachypnoea


Systolic or continuous (a diastolic murmur by
itself is never innocent).
No radiation.
Variation with posture.

Hepatomegaly

In most children with a murmur, the heart is normal


and the murmur is innocent. Innocent murmurs are
generated by turbulent ow in a structurally normal
cardiovascular system (CVS). There are two main
varieties of innocent murmur, the ejection murmurs
and the venous hums.
The ejection murmurs are: Fig. 2.3 Signs of cardiac failure in an infant.

Generated in the outow tract of either side of


the heart.
Soft, blowing, systolic.
Heard in the second or fourth left intercostal Cardiac failure
space.
Cardiac failure is rarely seen in paediatric practice
The venous hums: and is usually encountered in babies. The clinical
features are different from those in adults, i.e. babies
Are generated in the head and neck veins.
do not climb stairs or need extra pillows at night!
Are continuous low-pitched rumble.
Feeding is the only exertion they undertake and, not
Are heard beneath the clavicle.
being ambulant bipeds at this time of life, their
Disappear on lying at.
ankles do not swell up.
An innocent murmur is more likely to be noted
Clinical features of cardiac failure
during tachycardia, e.g. with fever, anaemia or
Symptoms: the parents might notice poor
exercise.
feeding and breathlessness, excessive sweating
Signicant murmurs and recurrent chest infections. There might be
A murmur with any of the following features is failure to thrive.
signicant: Signs: tachycardia, cool periphery, tachypnoea
and hepatomegaly. CVS signs can include a
Symptoms: syncope, episodic cyanosis.
third heart sound, murmur and abnormal
CVS signs: abnormal pulses, heart sounds,
pulses (Fig. 2.3).
blood pressure (BP) or cardiac impulse.
Murmur: diastolic, pansystolic, radiating to the Causes of cardiac failure
back or associated with a thrill. This may be due to pressure overload (obstructive
lesions) or volume overload (left to right shunts):
Signicant murmurs, which can be difcult to dis-
tinguish from an innocent murmur, include those Obstructive lesions usually present in neonates
caused by pulmonary stenosis (PS) and PDA. Refer (e.g. severe coarctation of the aorta [COA] or
for echocardiography if in doubt. hypoplastic left heart syndrome).

11
Heart, lung or ENT problems

Volume overload usually presents in infants. breathing; use of accessory muscles of breathing
The left to right shunt increases (e.g. ventricular intercostal and subcostal recessions, aring of alae
septal defects [VSD], PDA) as the pulmonary nasi; cyanosis and grunting.
vascular resistance falls. Tachypnoea (fast breathing) is usually a rate (in
breaths per minute) of:
Cardiac failure can be confused with the more
common respiratory causes of tachypnoea, e.g. >60 in neonates.
bronchiolitis or wheezing associated with a viral >50 in infants.
infection. A CXR will clarify the situation. Less >40 in under ves.
common causes of cardiac failure include supraven- >30 in older children.
tricular tachycardia and viral myocarditis.
Investigations for cardiac failure
Cough, stridor and wheeze
Useful investigations include: Cough
CXR will show an enlarged heart with A cough is a reex, involuntary explosive expiration
pulmonary congestion. that is a primary defence mechanism of the respira-
Electrocardiogram (ECG) will be suggestive of tory tract. In most instances, cough is due to an
the underlying heart defect. acute upper respiratory viral infection, but there are
Echocardiography shows the underlying heart important causes of chronic cough. The cough itself
defect, as well as poor contractility of the is rarely diagnostic except in two instances:
ventricles. 1. The barking cough of croup (acute
laryngotracheobronchitis).
2. The paroxysmal prolonged bouts of coughing,
LUNG sometimes ending in a sharp intake of breath
(the whoop), that occur in pertussis
Several noises of great diagnostic value emanate (whooping cough) and certain viral infections.
from the respiratory tract. A cough is the most
obvious. Stridor and wheezetwo other noises History of cough
associated with breathing and caused by airway nar- Find out the following information:
rowingare also of vital importance.
Duration of the cough: this is usually brief,
e.g. less than 1 week. A chronic cough,
Paediatric airway anatomy
(>3 weeks duration) indicates chronic infection,
The paediatric airway differs from the adult and suppurative lung disease, post-viral cough,
older child; the: receptor sensitivity, asthma, whooping cough,
Tongue is larger. inhaled foreign body or TB. Abrupt onset of
Larynx is higher and more anterior. symptoms sometimes with a history of choking
Larynx is funnel-shaped. suggests inhaled foreign body.
Trachea is short. Type of coughwhether dry, moist or
Narrowest portion is at cricoid (vocal cords in productive: the majority is dry (e.g. post-viral
adults). infection, asthma); a moist or productive cough
Epiglottis is horseshoe-shaped. raises the possibility of suppurative lung disease,
e.g. cystic brosis (a productive cough is rare in
Neonates are obligate nose breathers until 5 months children as sputum produced is swallowed).
of age, although 40% of term babies will convert Association with wheeze: cough without wheeze
to oral breathing if nasal obstruction occurs. See in children is rarely due to asthma.
Chapter 28 for physiological respiratory differences. Trigger factors: passive smoking, exposure to
daycare, nocturnal cough or cough on exposure
Respiratory distress to animals and atopy.
This term is loosely applied to indicate an increased Common causes of a cough are shown in Fig. 2.4.
work of breathing. This may be in the form of fast Note that many children with neurological

12
Lung 2

Fig. 2.4 Causes of cough.


Causes of cough

Type of cough Cause Clues to diagnosis

Acute Viral respiratory Coryzal symptoms


infection
Bronchiolitis Wheeze in <1 year
Pneumonia Fever and dyspnoea
Foreign body Sudden onset

Chronic Asthma Associated wheeze


Tuberculosis Tuberculosis contact
Pertussis Lymphocytosis, apnoea
Suppurative lung Productive cough
disease, e.g. cystic
fibrosis
Hyper-reactive cough Usually after upper respiratory
receptors tract infection

Fig. 2.5 Causes of stridor.

Acute Chronic

Epiglottis Larynx
(acute epiglottitis) (laryngomalacia)

Larynx/trachea Trachea
(croup) (vascular ring)

Inhaled
foreign body

disorders, e.g. severe cerebral palsy, cannot cough due to narrowing of the intrathoracic airway. Either
well and this is one of the reasons for their suscep- noise can occur at any phase of the respiratory cycle.
tibility to respiratory infections. The differences are:
Stridor is usually worse on inspiration when
Apnoea
extrathoracic airways naturally collapse.
This is the cessation of breathing for at least 20 Wheeze is usually worse on expiration when
seconds or associated with a fall in heart rate. Its intrathoracic airways naturally collapse.
presence can signify signicant respiratory or neuro-
logical disease and acute life-threatening events, It is very important to make a clear distinction
especially in infants. It is common in preterm infants between these signs as the likely cause and manage-
due to immaturity of the respiratory centres. ment of stridor is very different from that of wheeze.
Stridor implies an upper airway obstruction, which
Stridor and wheeze could be life threatening.

Differences between stridor and wheeze Stridor


Stridor is a noise associated with breathing due to There are two types of stridor: the acute and the
narrowing of the extrathoracic airway, i.e, the upper persistent (Fig. 2.5).
airway; wheeze is a noise associated with breathing Causes of acute stridor:

13
Heart, lung or ENT problems

Acute laryngotracheobronchitis (croup). tract. Distinct patterns of wheezing are recognized


Acute epiglottitis. in childhood asthma: infrequent episodic (75%),
Inhaled foreign body. frequent episodic (20%) and persistent (5%).
Angioneurotic oedema (rare), anaphylaxis. Less common causes of recurrent or acute wheez-
ing in childhood include:
Causes of persistent stridor in an infant are:
Cystic brosis associated with failure to thrive
Laryngomalacia (oppy larynx).
and frequent chest infections.
Anatomical obstructions, e.g. vascular ring
Laryngeal pathology: abnormal voice or cry.
(rare).
Gastro-oesophageal reux: excessive vomiting.
The different features of epiglottitis and croup reect Inhaled foreign body: sudden onset is the
the differences in pathology. In epiglottitis, there is clue.
rapid onset of supraglottic swelling (the swollen epi-
glottis is painful and makes swallowing difcult)
and bacteraemia. In croup, involvement of the
larynx generates the characteristic hoarse voice and
barking cough. Respiratory distress may be due to a
cardiac cause. History of an underlying
heart problem, failure to thrive, presence
of murmurs, abnormal position of the cardiac apex,
Features of epiglottitis: hepatomegaly and cyanosis not improving despite
Appearance: toxic. 100% oxygen should alert to the possibility of a
Cough: slight/absent. heart defect.
Voice: mufed.
Drooling: yes.
Able to drink: no.
EAR, NOSE AND THROAT (ENT)

Infections of the ears and the throat are very common


in childhood and ENT examination is therefore
Features of croup: essential in any febrile child.
Appearance: well.
Cough: barking.
Voice: hoarse.
Drooling: no.
Able to drink: yes. A small child might not localize pain to
the ear. The ears must be examined
carefully in any febrile child.

Wheeze
The usual causes are viral lower respiratory tract
infections and asthma. In children <1 year old, the Ear
tiny airways are easily narrowed by oedema and
secretions, making wheeze a common feature of Pain or discharge
infections that involve the bronchi and bronchioles. Earache is usually caused by infection of the middle
In children >2 years old, asthma is the most common ear (acute otitis media). Less common causes include
cause of wheeze. Asthma might have its onset in the otitis externa, a foreign body or referred pain from
rst year of life, however, it can be difcult to dis- teeth. A discharge might be of wax or purulent mate-
tinguish from the episodic wheezing induced by rial (from otitis externa, otitis media with perfora-
recurrent viral infections of the lower respiratory tion, or a foreign body).

14
Ear, nose and throat (ENT) 2

Hearing impairment
Hearing impairment is classied into two main
types: conductive and sensorineural hearing loss Any child with delayed speech must
(SNHL). The causes of both are illustrated in Fig. 2.6. have a hearing test:
Speech uses frequencies of 4004000 Hz.
Conductive hearing loss is very common and
Hearing thresholds (in decibels = db):
usually due to otitis media with effusion (OME,
>70 db = profound hearing loss.
also known as glue ear). Over half of all
2070 db = mild/severe hearing loss.
preschool children have at least one episode of
<20 db = normal hearing.
OME. A much smaller percentage has persistent
OME with hearing impairment, which can
delay language acquisition. Impedance tests are
used to assess middle ear function (Fig. 2.7);
they are not a direct measure of hearing.

Causes of impaired hearing


Sensorineural hearing loss is less common.
Routine screening is now introduced in the UK
Type Cause (Fig. 2.8). Not all cases will be detected in the
neonatal period as, for example, congenital
Conductive Otitis media with effusion
Foreign body infections and some genetic causes of SNHL
Wax are progressive and cannot be detectable at
Sensorineural Congenital infection
this age.
Prematurity (<32/40) Acquired hearing loss occurs after CNS
Risk factors: hypoxia infections, e.g. meningitis, and all affected
jaundice
ototoxic drugs children should have their hearing tested after
Meningitis the acute illness has resolved (Fig. 2.9).
Genetic (rare)
Treatment with cochlear implantation might be
Fig. 2.6 Causes of impaired hearing. required.

Impedance tympanometry
Compliance NORMAL Compliance MIDDLE EAR DISEASE
2.5 2.5
2.0 2.0

1.5 1.5

1.0 1.0

0.5 0.5

0 0
300 200 100 0 +100 +200 300 200 100 0 +100 +200
Pressure (mmHg) Pressure (mmHg)

Fig. 2.7 Impedance tympanometry. This tests for middle ear disease. Sound is transmitted across the tympanic membrane if
it is compliant (i.e. equal pressure either side). The test measures reected sound at different pressures. In serous otitis
media, compliance is reduced at all pressures because of the uid present resulting in a attened curve.

15
Heart, lung or ENT problems

Nose
Noses can discharge or bleed. The common cold
Parental suspicions about possible accounts for most acute watery discharges. A chronic
hearing loss should be taken seriously, discharge might be due to allergic rhinitis or a uni-
with early referral for audiological testing. lateral foreign body.
Children with signicantly impaired language Causes of epistaxis (nose bleeds) include:
development, behavioural problems or those with
a history of repeated middle ear disease should Trauma.
also be referred. Nose picking.
Bleeding disorders (especially low platelets).

Fig. 2.8 Tests of auditory function.


Test of auditory function

Age Test Indication

Newborn Otoacoustic emission Presence of high-risk factors,


Brainstem-evoked potential e.g. prematurity
audiometry response cradle Newborn screening

79 months Parental questionnaire Used prior to newborn screening


distraction test

1824 months Speech discrimination tests Children with suspected hearing loss
Threshold audiometry (<3 years)
Impedance audiometry Children with repeated middle ear
disease

School entry 'Sweep test' (modified pure tone Screen all children
audiogram Fig. 2.9)

A Frequency (Hz) B Frequency (Hz)


120 250 500 1000 2000 4000 8000
Severity of hearing loss 20
20 10
0
Hearing level (dB ISO)

Threshold sound
Hearing level (dB ISO)

0 10
20
20 30
Mild (2030 dB)
40
40 Moderate (3050 dB) 50
60
60 Severe (5070 dB) 70
80
80 Profound (7090 dB) 90
100
100 key 110
120
Frequency range of Bone conduction 5 0 0 0 0 0 0
Right ear 12 25 50 100 200 400 800
speech sounds
Left ear

Fig. 2.9 Audiogram demonstrating: (A) normal hearing and (B) bilateral conductive hearing loss. In (B), there is a 2040 dB
hearing loss in both the right and left ears.

16
Ear, nose and throat (ENT) 2

Throat Snoring and obstructive sleep


Sore throat (pharyngitis) apnoea (OSA)
Constitutional upset, tonsillar exudate and Snoring is a common symptom in children but in
lymphadenopathy suggest a bacterial infection: some is associated with signicant OSA. History of
group A -haemolytic streptococci is a common apnoea with arousals during sleep and unusual
pathogen (strep. throat). sleep positions can indicate OSA. Daytime symp-
Rarely, a peritonsillar abscess (quinsy) toms include chronic mouth breathing, behavioural
might develop and require incision and problems and occasionally daytime sleepiness.
drainage. Severe OSA can result in failure to thrive, right heart
EpsteinBarr virus (infectious failure and cor pulmonale. Those children at high
mononucleosis) is an important cause of risk of OSA include children with craniofacial prob-
exudative tonsillitis. lems and Down syndrome.

17
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Gut or liver problems 3
Objectives

At the end of this chapter, you should be able to


Understand common symptoms of gastrointestinal disease.
Assess a child with a gastrointestinal complaint.
Differentiate among common gastrointestinal problems.

Physical examination
GUT
Careful systemic examination is important if the
Disorders of the gut present with a limited number many traps for the unwary are to be avoided. Look
of symptoms, including abdominal pain, vomiting, for:
diarrhoea or constipation, failure to thrive and Fever: present in appendicitis, mesenteric
bleeding. adenitis and urinary tract infections (UTIs).
Jaundice: infectious hepatitis causes abdominal
pain.
Abdominal pain Rash: the abdominal pain of Henoch
Acute abdominal pain Schnlein purpura (HSP) might precede the
characteristic purpuric rash.
The most important issue is to identify conditions
Respiratory tract: is there a lower lobe
needing urgent surgical intervention (Figs 3.1 and
pneumonia?
3.2).
Hernial orices: is there a strangulated hernia?
Genitalia: is there a torsion of the testis?
History
Investigations
In babies, abdominal pain is inferred from episodic
Full blood count (FBC): a neutrophil leucocytosis
screaming and drawing up of the legs. In older chil-
might be present in acute appendicitis or
dren, important features in the history are:
bacterial infection of the urine, lung or throat.
Duration: pain lasting more than 4 hours is A sickling test should be considered in children
likely to be signicant. of African or Afro-Caribbean origin.
Location: pain further away from the umbilicus Urinalysis: dipstick for glucose and ketones,
is more likely to be signicant (early urine microscopy and culture.
appendicitis is an exception to this). Imaging: a plain abdominal lm although
Nature: constant or intermittent/colicky. rarely needed, might reveal constipation, renal
Associated symptomatology: vomiting calculi or signs of intestinal obstruction.
(is there obstruction or gastroenteritis?), Abdominal ultrasound might reveal obstructive
stools (pain and bloody stools suggest uropathy, an appendix mass intussusception or
intussusception in an infant, inammatory ovarian cysts.
bowel disease in older children), dysuria Urea and electrolytes: in a vomiting child,
(urinary tract infection), cough (pneumonia), electrolyte disturbances must be identied.
anorexia (a normal appetite is a sign of Blood glucose.
well-being). CRP.

19
Gut or liver problems

Surgical causes of acute abdominal pain Features of functional recurrent abdominal pain

Clinical clues
Pain is periumbilical, worse on waking, and short-lived
No associated appetite loss or bowel disturbance
Acute appendicitis Pattern of migration and right iliac fossa
tenderness
Family history of migraine, irritable bowel syndrome,
or recurrent abdominal pain

Intussusception Episodic pattern


Healthy, thriving child with normal physical examination
Torsion of testes Clinical examination
Fig. 3.3 Features of functional recurrent abdominal pain.
Strangulated Groin mass
inguinal hernia

Fig. 3.1 Surgical causes of acute abdominal pain. Rare organic causes of recurrent abdominal pain

UTI
Urinary calculus
Medical causes of acute abdominal pain Obstructive uropathy
Inflammatory bowel disease
Duodenal ulcer
Abdominal causes Systemic causes Malrotation
Recurrent pancreatitis
Colic Diabetic ketoacidosis
Constipation Sickle-cell disease
Mesenteric adenitis HenochSchnlein purpura Fig. 3.4 Rare organic causes of recurrent abdominal pain.
Gastroenteritis Lower lobe pneumonia
Hepatitis
Pancreatitis
Acute pyelonephritis/UTI Urine microscopy and culture.
Plain abdominal lm.
Fig. 3.2 Medical causes of acute abdominal pain. Abdominal ultrasound.
FBC, erythrocyte sedimentation rate (ESR).
Helicobacter pylori serology or hydrogen breath
Recurrent abdominal pain test.
In most children, recurrent abdominal pain does
not have an organic cause and a positive diagnosis
of functional abdominal pain can be made without
investigations (Fig. 3.3) in most.
Acute appendicitis is uncommon
under 2 years.
Consider intussusception in vomiting
infants aged 612 months.
Extensive investigation often
Not all abdominal pain originates in the
reinforces anxieties in the
abdomen.
parents and child and should
Diabetic ketoacidosis is often associated with
be discouraged.
abdominal pain.
Consider gynaecological causes in a teenage girl.

If a diagnosis of functional abdominal pain is


made, it is important to emphasize that the pain is
often real and not faked, but without an identiable
Vomiting
physical cause. Vomiting is a non-specic symptom associated with
There is a long list of rare causes of recurrent a wide variety of conditions but can also be a normal
abdominal pain (Fig. 3.4). Careful history and nding in well babies. A complete clinical assess-
examination will usually provide a clue. Further ment often distinguishes the normal possets from
investigations to exclude a possible organic cause serious pathology. Vomiting may also indicate
may include: disease outside the gastrointestinal tract.

20
Gut 3

History sphincter that resolves spontaneously. Thickening


the feeds and positioning head up after feeds are
Important points to establish include:
useful manoeuvres. Severe reux is uncommon (it
Does the vomit contain blood or bile? Biliary occurs in cerebral palsy and babies with chronic
vomiting needs a surgical opinion and further lung disease) and might be complicated by failure
investigations. to thrive, oesophagitis and recurrent aspiration
Is it projectile? It is quite common for babies to pneumonia.
posset and bring up small quantities of ingested Acute medical causes of vomiting include:
milk. Projectile vomiting, on the other hand, Gastroenteritis.
may indicate pyloric stenosis. Respiratory tract infections such as tonsillitis,
Duration: is vomiting an acute or a persistent otitis media and whooping cough.
problem? UTI.
Associated symptoms: is vomiting accompanied Meningitis.
by fever, abdominal pain, constipation or
diarrhoea? Important surgical causes include pyloric stenosis
and intussusception:
Examination Pyloric stenosis causes non-bile-stained
Examine for the following: projectile vomiting, most commonly in baby
boys between the age of a few weeks and
Signs of dehydration. 3 months.
Fever. The peak age of intussusception is around 69
Abdominal distension (visible peristalsis), months. It presents with episodic severe
tenderness or masses. abdominal pain and irritability and is
Hernial orices and genitalia. associated with pallor and eventually shock and
Common and important causes are discussed below. passage of bloodstained redcurrant jelly stools.

The neonate Older children


Vomiting can be a sign of systemic infection (e.g. Acute vomiting can occur in infections as described
meningitis, UTI) or certain inborn errors of metabo- or might be one of the symptoms of acute appendi-
lism (e.g. congenital adrenal hyperplasia). citis or abdominal migraine. Rare but important
Surgical causes include bowel obstruction, which causes include raised intracranial pressure, malrota-
can be either small or large bowel obstruction. This tion of the intestine, inborn errors of metabolism
is often associated with abdominal distension and and eating disorders such as bulimia nervosa.
no bowel motions. Visible peristalsis might be seen. Haematemesis
Causes of small bowel obstruction include:
The differential diagnosis for vomiting blood varies
Duodenal atresia (associated with Down with the age of the child. In the rst few days of life
syndrome). it is usually caused by swallowed maternal blood.
Malrotation with volvulus. Later on, the main causes are oesophagitis and
Strangulated inguinal hernia. gastritis. Oesophageal varices are a cause in liver
Meconium ileus due to cystic brosis. disease but peptic ulcers in children are uncommon.
Causes of large bowel obstruction include Haematemesis can also occur due to a tear in the
Hirschsprungs disease (absence of the myenteric oesophageal mucosa due to forceful vomiting
plexus in the rectum and colon). Passage of meco- (MalloryWeiss syndrome).
nium is often delayed beyond 48 hours.
Diarrhoea
Infants: 1 month to 1 year Acute diarrhoea
The commonest cause of persistent vomiting in The most common cause is infective viral gastro-
babies up to 1 year is gastro-oesophageal reux due enteritis. It commonly occurs in combination with
to functional immaturity of the lower oesophageal vomiting.

21
Gut or liver problems

Infective causes of acute diarrhoea Assessment of dehydration

Viral Signs and Mild <5% Moderate Severe


Rotavirus symptoms 510% >10%
Small round structured virus (SRSV)
Adenovirus Decreased urine + + +
Bacterial output
E. coli
Dry mouth +/ + +
Campylobacter spp.
Salmonella spp. Sunken eyes or +/ + +
Shigella spp. depressed
Vibrio cholerae fontanelle
Protozoa
Giardia lamblia Decreased skin +/ +
Entamoeba histolytica turgor
Cryptosporidium parvum
Tachypnoea +/ +

Fig. 3.5 Causes of acute diarrhoea. Tachycardia +/ +

Prolonged +/ +
capillary refill
time
Some infections cause pathology in the lower Appearance Alert Alert/lethargic Lethargic
gastrointestinal (GI) tract. In this case, there might
be no vomiting and diarrhoeaoften with blood Fig. 3.6 Assessment of dehydration.
and mucusdominates the clinical presentation
(Fig. 3.5). Bloody diarrhoea should raise suspicion
of specic pathogens and of non-infective condi-
tions such as intussusception and inammatory
Causes of chronic diarrhoea
bowel disease.
Infective causes Giardiasis
Amoebiasis

Food intolerance Disaccharides lactose intolerance


Proteins cows milk protein intolerance

Bloody diarrhoeaconsider: Malabsorption Coeliac disease (gluten enteropathy)


Infective causes: Campylobacter, Cystic fibrosis

Shigella, amoeba. Inflammatory Crohns disease


Intussusception: especially 69 months. bowel disease Ulcerative colitis
Haemolyticuraemic syndrome: check renal
Fig. 3.7 Causes of chronic diarrhoea.
function and blood pressure.
Ulcerative colitis (rare).

stools with undigested vegetables often present


(peas and carrots syndrome). An acute diarr-
On examination, high fever suggests a hoeal episode might become protracted (duration
bacterial gastroenteritis, especially Shigella infection. >2 weeks) because of postgastroenteritis syndrome
Assessment of dehydration is most important due to secondary lactose intolerance. Watery
(Fig. 3.6). diarrhoea returns when a normal diet, including
milk, is reintroduced. Stools give a positive Clini-
test result for reducing substances. Some infective
Chronic diarrhoea agents, such as Giardia, also cause protracted
The most common cause of persistent loose stools diarrhoea.
in a well, thriving, preschool child is so-called Chronic diarrhoea in a child who is failing to
toddler diarrhoea. A maturational delay in intes- thrive raises the possibility of several important
tinal motility causes intermittent explosive loose diagnoses (Fig. 3.7). A description of the stools

22
Gut 3

might suggest steatorrhoea (pale, bulky and


Organic causes of constipation
offensive) and the presence of blood or mucus
suggests infective causes or inammatory bowel Local causes Hirschsprungs disease
disease. Neuromuscular disorders, e.g. cerebral palsy

Systemic causes Hypothyroidism


Hypercalcaemia
Physical examination Renal tubular disorders
This includes assessment of dehydration (including
Fig. 3.8 Organic causes of constipation.
weight) and then identifying the cause of diarrhoea.
Look for any evidence of malabsorptionanaemia,
poor weight gain, abdominal distension and buttock
wasting. A thriving child with no associated symp-
tomatology is unlikely to have signicant disease.
Febrile illness,
Faecal soiling due to constipation and overow dehydration, etc.
can be mistaken for diarrhoea (conrm by rectal
examination).

Hard stool
Investigations
These are directed towards the suspected cause:
Stool microscopy and culture. Discomfort/pain on
Tests for reducing substances. defaecation anal fissure

Tests for nutrient malabsorptionHb


estimation, serum iron and red cell folate.
Retention of Further accumulation
Jejunal biopsy (coeliac disease). faeces of faeces
Sweat test (cystic brosis).
Increased rectal
Constipation capacity

The term constipation refers to infrequent passage


of stools, passage of abnormally hard stools or pain Fig. 3.9 The cycle of simple constipation.
or discomfort on defecation. It might be accompa-
nied by soiling caused by involuntary passage of
faeces (overow incontinence) or voluntary defeca-
Organic causes of constipation are rare (Fig. 3.8).
tion in an unacceptable place (encopresis).
An organic cause is more likely in infants, with
onset at birth or when constipation occurs in the
context of additional problems such as failure to
thrive.
In childhood, the most common cause of chronic
Hard stools in a baby may occur with:
constipation is so-called simple constipation (Fig.
Inadequate milk intake.
3.9) associated with acquired megacolon. Short-
Overstrength formula feeds.
segment Hirschsprungs disease might present late
Changing to cows milk.
and should be considered in severe or intractable
constipation (Fig. 3.10).

In infants and children, constipation is often


acute and transient though there is a wide normal History
variation in stool pattern. Constipation might
Enquire about:
follow an acute febrile illness and can be prolonged
if the hard stools cause a small, supercial anal Frequency and consistency of stools.
tear. Presence of pain or blood on defecation.

23
Gut or liver problems

Fig. 3.10 Differences between


simple constipation and Differences between simple constipation and Hirschsprungs disease
Hirschsprungs disease.
Simple constipation Hirschsprungs disease

Frequency Common Rare1 : 4500 live births

Onset Late 85% in first month of life

Passage of meconium Normal (<24 h) Delayed

Soiling Usual Uncommon

Abdomen Faecal mass Distended

Rectum Loaded and distended Narrow and empty

Presence or absence of soiling


(in children).
Any history of delay in passage of Poor weight gain is a common
meconium. cause of parental anxiety. If
the childs growth steadily
follows the centile curve, it is
Physical examination likely to be normal even if it is below the 2nd
centile, if he /she is otherwise well. Normal small
Check for the following:
infants have small appetites, a feature that can
Systemic signs of failure to thrive or cause inappropriate parental anxiety.
dehydration.
Abdominal distension, palpable descending
colon.
Presence of anal ssure.
Rectal examination: anal tone, rectum empty or
loaded? Recognition of the constitutionally small
child:
Small parents.
Failure to thrive Low birth weight for gestational age.
The phrase failure to thrive is used to describe an Proportionally small: low centile for height,
inadequate weight gain during the rst year of life. weight and head circumference.
Although this might be associated with poor linear Normal height and weight velocities.
growth and short stature, it is better to consider this Asymptomatic.
as a separate problem. Normal physical examination.
The rate of weight gain obtained by plotting
serial weights on a centile chart over a period of
time is more important, since a single observation
is difcult to interpret. It is also important to Globally, the most common cause of failure to
remember that birth weight is determined by the thrive is inadequate intake of food (i.e. starvation).
intrauterine environment, and the weight of a large In the UK, most cases have a non-organic cause and
infant may drop from its birth centile to a lower, are associated with psycho-social and environmen-
genetically determined centile (catch down) in the tal deprivation. Organic causes include inadequate
rst year. food intake, defective absorption of food from the

24
Liver 3

Fig. 3.11 Causes of failure to thrive.


Causes of failure to thrive

Organic Non-organic

Inadequate food intake: Psycho-social/enviromental


Breast feedinginsufficient milk, poor deprivation
technique Inadequate or inappropriate
Bottle feedingmilk too dilute feeding is usually a component
Insufficient diet offered
Anorexia: due to chronic illness
Unable to feed: cleft palate, cerebral palsy
Vomiting: gastro-oesophageal reflux

Malabsorption:
Coeliac disease
Cystic fibrosis
Short gut (post-operative)

Protein-losing enteropathy:
Cow's milk protein intolerance

Increased energy requirements:


Chronic illnesscystic fibrosis, congenital
heart disease, chronic renal failure

GI tract (malabsorption), protein loss from the gut physiological changes to severe liver disease requir-
and increased energy expenditure (Fig. 3.11). ing early recognition and intervention.
Extensive investigation is not usually required.
The constitutionally small normal child should be Neonatal jaundice
recognized (see Hints & Tips) and non-organic
failure to thrive can be positively diagnosed. A brief See Chapter 9.
hospital admission to document weight gain on a
measured dietary intake might be helpful. Jaundice after infancy
Jaundice in childhood usually has an infective cause.
Viral hepatitis accounts for most, but other patho-
LIVER gens can involve the liver. Infective hepatitis can be
caused by:
Liver disease is uncommon in childhood and usually
Hepatitis viruses: hepatitis A is the most
manifests as jaundice or hepatomegaly.
common cause of jaundice after the neonatal
period.
Jaundice EpsteinBarr virus (EBV).
Malaria or bilharzia.
Jaundice is a yellowish discoloration caused by an
Leptospirosis (Weils disease).
increase in circulating bilirubin. The bilirubin can
be unconjugated or conjugated, depending on the Liver injury can be caused by a variety of drugs
aetiology (Fig. 3.12). Mild jaundice is best detected (e.g. sodium valproate, halothane) and, in overdose,
in the sclerae rather than the skin. paracetamol and iron are toxic to the liver. Jaundice
Infectious hepatitis is the most common cause of with pallor suggests a haemolytic episode (e.g.
acute jaundice in the older child. However, jaundice glucose-6-phosphate dehydrogenase deciency,
is encountered most commonly in the newborn spherocytosis or haemolytic uraemic syndrome).
period, at which time its causes range from trivial Malaria is an important cause in tropical regions.

25
Gut or liver problems

Fig. 3.12 Bilirubin metabolism.

Red blood cells


Haemoglobin

Spleen Haemoglobin

Globin
Haem

Iron
Unconjugated
bilirubin Kidney

Unconjugated
bilirubin bound to
Urobilinogen
albumin in blood
excreted in
urine
Albumin

Bilirubin diglucuronide
(conjugated
bilirubin)

Liver

Gall bladder

Gut
Urobilinogen
Enterohepatic Stercobilinogen
recirculation via
portal vein

Faeces

Hepatomegaly after infancy Hepatosplenomegaly can occur in advanced liver


disease and in a number of important haematologi-
Isolated hepatomegaly is uncommon. In association cal diseases (e.g. leukaemia, thalassaemia) and rare
with jaundice, the causes include biliary atresia and storage disorders (e.g. mucopolysaccharidosis).
infective hepatitis. In babies, hepatomegaly is an
important feature of cardiac failure.

26
Haematuria or proteinuria 4
Objectives

At the end of this chapter, you should be able to


Identify the common abnormalities in urinalysis.
Identify the common causes of haematuria and proteinuria.

In the infant or younger child, urinary tract infection


(UTI) is the most common disorder encountered HAEMATURIA
and it often presents without specic symptoms or
signs. Urine abnormalities might also indicate renal Test strips are very sensitive. Haematuria should be
pathology. Important symptoms are: conrmed by urine microscopy and is dened as
>10 red blood cells (RBCs) per high power eld. The
Polyuria (frequency) or enuresis: suggesting UTI causes are listed in Fig. 4.2.
or diabetes mellitus. Polyuria suggests an
increased urine output (diabetes mellitus, History
diabetes insipidus) or excessive water intake,
Find out the following:
whereas frequency does not necessarily mean
an increased urine output. Duration and recurrence.
Dysuria: suggesting UTI. Dysuria and frequency: suggest UTI.
Oliguria: suggesting dehydration or acute renal Associated loin pain: suggests pyelonephritis if
failure. associated with fever or renal stones, especially
Discoloured urine (Fig. 4.1). if the pain is colicky.
Fever with or without rigors: rule out UTI or Recent foreign travel: suggests schistosomiasis.
pyelonephritis. Recent sore throat or skin infection: suggests
post-streptococcal glomerulonephritis.
Family history of haematuria or deafness:
suggests Alport syndrome.
Polyuria and polydipsia suggest
diabetes mellitustest the urine for
Examination
glucose and ketones. Examine for:
Excessive drinking is a more common cause of
Fever: suggests UTI.
polyuria and polydipsia in a toddler than diabetes
Oedema: suggests nephrotic syndrome. In
insipidus.
nephritis oedema is usually mild though
Polyuria might present as secondary enuresis.
haematuria is more common.
Hypertension: suggests acute nephritis/chronic
renal scarring or chronic renal insufciency.
Important signs are:
Typical rash and joint swelling: suggests
Hypertension: suggesting glomerulonephritis. HenochSchnlein purpura.
Oedema: suggesting nephrotic syndrome. Bruises and purpura: suggests idiopathic
Palpable bladder or kidneys: suggest anatomical thrombocytopenic purpura.
abnormalities. Abdominal mass: suggests Wilms tumour.

27
Haematuria or proteinuria

Appearance/Colour Causes of haematuria


Dark yellowconcentrated normal
Red - Haematuria Microbiology Glomerular Non-glomerular
- Haemoglobinuria Microscopy: White cells
- Beetroot ingestion Red cells Presence of red cell or white cell Infection:
Brown - Urobilinogen Organisms casts and proteinuria suggests a Bacterial UTI
Orange - Rifampicin Casts glomerular source of the blood TB
Cloudy - Pyuria Culture and sensitivity glomerulonephritis: Schistosomiasis
- Urate crystals
Acute, poststreptococcal Trauma
HenochSchnlein nephritis Stones
lgA nephropathy (Bergers disease) Wilms tumour
Alport syndrome (familial deafness
and nephritis)
Bleeding disorders, esp:
thrombocytopenia

Fig. 4.2 Causes of haematuria.


Dipstix
Protein
See text
Blood Amount
Nitrites Frequency- UTI
UTI Polyuria - Excess drinking Causes of proteinuria
Leucocytes
Glucose - Diabetes mellitus - Diabetes mellitus
Ketones - Diabetes mellitus - Diabetes insipidus
Transient Persistent
- Starvation Oliguria - Dehydration
Urobilinogen - Jaundice - Acute renal failure
Fever Nephrotic syndrome
Exercise (>1 g/m2/24 h)
Fig. 4.1 Information available from urine. Orthostatic proteinuria UTI
During the day (stops Glomerulonephritis
When recumbent at night)

Fig. 4.3 Causes of proteinuria.

UTI can present with fever and no clues


to its origin, especially in infants and Persistent proteinuria or haematuria for >6
young children. Urine microscopy and culture should months.
be undertaken in any infant with unexplained fever. Unexplained abnormal renal function.
Chronic glomerulonephritis.
Nephrotic syndrome if the child is <1 year or
>12 years old at onset.
Investigations Steroid-resistant nephrotic syndrome.
The choice of investigations depends on the renal
pathology suspected:
Microscopy and culture of urine. PROTEINURIA
Imaging: nuclear medicine and ultrasound
scans. Transient, mild proteinuria is mostly benign. The
Haematology: full blood count (FBC), nephrotic syndrome causes persistent heavy pro-
coagulation screen and sickle-cell screen. teinuria. The causes of proteinuria are listed in Fig.
Biochemistry: urea and electrolytes (U&E), 4.3. Normal children produce <60 mg/m2/24 h of
creatinine (Cr), Ca2+, PO43 and urate. protein in the urine.
Throat swab.
Anti-streptolysin O titre (ASOT), C3 and Denition
hepatitis B antigen.
Early morning urine protein/creatinine ratio
Transient, benign haematuria can occur but is a >20 mg/mmol.
diagnosis of exclusion. A renal biopsy might be indi- Greater than 5 mg/kg in a 24-h urine
cated when there is a need for a diagnosis: sample.

28
Proteinuria 4

Examination Albustix values


Physical examination should include evaluation for
Stix reading Albumin concentration g/L
signs of renal disease (especially the nephrotic syn-
drome), which include: + 0.3
+ + 1.0
Oedema: especially periorbital, scrotal, leg and + + + 3.0
ankle. + + + + >20

Ascites. Fig. 4.4 Albustix values.


Pleural effusions (unusual).
Blood pressure: low or high.
Renal function: U&E, Cr.
Plasma albumin and lipids.
Investigations Midstream urine for microscopy, culture and
The investigations include: sensitivity.
Urine dipstix (Fig. 4.4). Throat swab, ASOT, anti-DNaseB.
Early morning protein creatinine ratio. Complement C3, C4.

29
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Neurological problems 5
Objectives

At the end of this chapter, you should be able to


Understand the common types of paroxysmal events in children.
Take history and examine a child with suspected epilepsy.
Understand the common causes of headache.
Evaluate an unconscious child.

Important symptoms are: Any altered consciousness or awareness?


Abnormal movements (involving limbs or
Paroxysmal episodes (ts, faints, and funny
face?).
turns).
Altered tone (rigidity or sudden fall?).
Headache.
Altered colour (pallor or cyanosis?).
Vomiting and ataxia.
Eye movements (did they roll up?).
Important signs are: Duration of the episode?
Any trigger factor, e.g. ashing lights?
Focal neurology.
Altered consciousness or coma. Other important features to establish in the history
include:
Global or specic developmental delay can be a
manifestation of neurological disease, as can abnor- Previous history: was the birth normal, was
malities of head size or shape; these are discussed there any developmental delay, has there been
in Chapters 8 and 17. any recent head injury?
Family history: both epilepsy and febrile
convulsions run in families.
FITS, FAINTS AND FUNNY TURNS The paroxysmal episodes (faints and funny turns)
that must be distinguished from epileptic seizures
Transient episodes of altered consciousness, ab- are listed in Fig. 5.1 and described below.
normal movements or abnormal behaviour are a
common presenting problem. The rst task is to
distinguish true epileptic seizures (ts) from faints
and funny turns. An accurate account from a witness
is essential.

History While taking history, it is very


Provoking events useful to take them through
the event from the beginning.
Find out exactly when and where the episode Parents can often demonstrate the t. When the
occurred. nature of the t is not clear, it is extremely useful if
parents can record the event on video (a mobile
Description of the episodes phone with video recording facility can be handy).
Get an exact description of:

31
Neurological problems

Brief unawareness lasting a few seconds.


Differential diagnosis of seizures by age
No loss of posture.
Age Differential diagnosis
Immediate recovery.
Might be very frequent.
Infants Jitteriness Associated with automatisms (e.g. blinking and
Benign myoclonus
Apnoeas lip-smacking).
Gastro-oesophageal reflux

Toddlers Breath-holding attacks Partial seizures


Reflex anoxic seizures
Rigors
These are characterized by:

Children Vaso-vagal syncope (faints) Involvement of only a part of the body.


Tics May be associated with an aura.
Day-dreaming
Migraine
May spread to involve the entire body
Panic attacks, tantrums secondary generalized epilepsy.
Night terrors Consciousness may be retained (simple partial
seizure) or lost (complex partial seizures).
Fig. 5.1 Differential diagnosis of seizures by age.
Faints (vasovagal syncope)
Seizures (ts) Features include the following:
Usually occurs in teenagers.
Provoked by emotion, hot environment.
A seizure is a transient episode of Preceded by nausea and dizziness.
abnormal and excessive neuronal Sudden loss of consciousness and posture.
activity in the brain. Rapid recovery.
The term epilepsy refers to the tendency to
recurrent seizures. Funny turns
Breath-holding attacks
Generalized tonic-clonic seizures These have the following characteristics:

These are characterized by: They are provoked by temper or frustration


usually in children between 6 months and 6
Tonic phase of rigidity with loss of posture
years of age.
followed by clonic movements of all four
The screaming toddler holds his or her breath
limbs.
in expiration, goes blue, then limp and then
Loss of consciousness.
makes a rapid spontaneous recovery.
Duration: 220 minutes.
Postictal drowsiness.
Febrile seizures are usually of this sort.
It is important to advise
parents not to reinforce these
behaviours by paying too
Meningitis or encephalitis must be much attention to the child.
considered in all children with fever and
seizure. Febrile convulsions are a diagnosis of
exclusion.
Reex anoxic seizures
These have the following characteristics:
Absence seizures They are provoked by pain (usually a mild head
These are characterized by: injury) or fear.

32
Headache 5

The infant or toddler becomes pale and loses


Causes of acute seizures
consciousness (reecting syncope, secondary to
vagal-induced bradycardia). Common Uncommon
The subsequent hypoxia might induce a tonic-
clonic seizure. Febrile seizures Meningitis/encephalitis

Epilepsy Head injury


Rigors
Hypoglycaemia Hyponatraemia
Rigors are transient exaggerated shivering in associa- Cerebral tumour or malignant infiltration
tion with high fever.
Fig. 5.2 Causes of acute seizures.

Examination
The well child
Physical examination is often normal in a well child
HEADACHE
with idiopathic epilepsy (the majority). However,
An acute headache commonly occurs as a non-
particular attention should be paid to:
specic feature of any febrile illness but can be a
Skin: neurocutaneous syndromes are associated feature of meningitis. Recurrent headaches are very
with epilepsy, especially tuberous sclerosis and common in children and their causes range from the
neurobromatosis. trivial to the sinister (Fig. 5.3); serious causes are
Optic fundi: fundal changes might be apparent rare.
in congenital infections and neurodegenerative
diseases. History
The convulsing child Important features include:

Physical examination of an infant or child present- Site: frontal, temporal, bilateral or unilateral?
ing acutely with generalized tonic-clonic seizures Intensity: severe, throbbing?
(convulsions) has a different emphasis, reecting Duration and frequency?
the likely causes (Fig. 5.2). Important features on Provoking factors: stress, food?
examination include: Associated symptoms: weakness, paraesthesia,
nausea or vomiting?
Fever: febrile convulsions or intracranial
infection.
Anterior fontanelle: tense or bulging if the Simple tension headaches
intracranial pressure (ICP) is raised. These are characterized by the following:
Meningism.
Optic fundi: papilloedema in raised ICP Symmetrical and band-like in nature.
(changes might occur in congenital infections Gradual onset, duration less than 24 hours.
and neurodegenerative diseases). No associated nausea or vomiting.
Focal neurological signs. Often recur frequently.
Altered level of consciousness. Affect 10% of school children.

Migraine
Can be unilateral and throbbing in nature.
Regarding the convulsing child: With or without visual aura, area of visual loss
Remember ABC: airway, breathing, or fortication spectra.
circulation. Associated nausea, vomiting, abdominal pain.
Always measure blood glucose urgently in a Duration several hours.
convulsing child to identify and treat Trigger factorsstress or relaxation, foods
hypoglycaemia. (cheese, chocolate).
Family history.

33
Neurological problems

Fig. 5.3 Causes of recurrent


headache.

Benign Sinister

Raised ICP
Migraine Space-occupying lesion
Hydrocephalus
Tension headache

Sinusitis

Refractive errors

Hypertension

Migraine can be classied as: Headache is rarely caused by a brain


Common: no aura. tumour but 70% of children with a brain
Classical: aura preceding headache. tumour present with headache. The
Complex: associated neurological decit, e.g. headache might wake the child at night, is worst in
hemiplegia, ophthalmoplegia. the morning and associated with vomiting. Most are
in the posterior fossa and cause raised ICP.

Headache from raised THE UNCONSCIOUS CHILD


intracranial pressure
The acute development of a diminished level of
Worse in recumbent position, i.e. during the
consciousness is a medical emergency. In the major-
night or early morning.
ity of cases a systemic problem rather than a primary
Associated with nausea and vomiting.
brain disorder is responsible (Fig. 5.4). The cause
Pain is usually mild and diffuse.
might be evident from the history but, if not, clinical
Personality changes may develop.
evaluation is the key after emergency management.
For investigation and management see Chapter 26.
Examination
It is important not to perform lumbar puncture in
Attention should be paid to the following signs in an acutely comatose child as raised intracranial pres-
a child with recurrent headache: sure is likely. It can always be performed later if a
Blood pressure: hypertension (e.g. aortic diagnosis is required.
coarctation is a rare cause of headache).
Pulse: radialfemoral delay (coarctation). Examination
Visual acuity: refractive errors cause Systemic examination
headache.
This is the priority:
Papilloedema: a late sign of raised ICP.
Focal neurological decit: especially cerebellar ABC: airway, breathing, and circulation.
signs (posterior fossa tumour). Temperature.

34
Headache 5

Causes of coma
Neurological examination
For a neurological examination, check the AVPU
Cause Differential diagnosis score; there are four categories:
Infection Meningitis A = alert.
Encephalitis
V = responds to voice.
Trauma Head injury P = responds to pain (the Glasgow Coma
Metabolic Hypoglycaemia Scale (GCS) is usually less than 8 at
this point).
Primary CNS disorder Seizures
U = unresponsive.
Drugs Opiates
Lead

Fig. 5.4 Causes of coma.

When a child is comatose:


Glasgow coma scale Establish the degree of
unconsciousness (use the GCS or AVPU).
Best motor Best verbal
Assess and treat the ABCs and hypoglycaemia.
Score Eye opening response response
Look for signs of raised intracranial pressure.
1 No response No response No response Establish the possible causes and decide which
2 Open to pain Extension Non-verbal sounds need immediate treatment.

3 Open to verbal Inappropriate Inappropriate


command flexion words

4 Open Flexion with Disorientated and


Check also:
spontaneously pain conversing

5 Localizes pain Orientated and


The Glasgow coma scale (Fig. 5.5).
conversing The pupils: these might be small (suggests
opiate or barbiturate poisoning), large (suggests
6 Obeys
command a postictal state) or unequal (suggests severe
head injury or intracranial haemorrhage).
Fig. 5.5 The Glasgow coma scale: top score = 15.
For meningism.
The fontanelle.
Blood glucose.
Hypertension, bradycardia, irregular respiration Further reading
(signs of coning). Kirkham FJ. Non-traumatic coma in children. Archives of
Signs of physical abuse or injury. Diseases of Childhood 2001; 85:303312.

35
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Musculoskeletal problems 6
Objectives

At the end of this chapter, you should be able to


Assess a limping child.
Understand the common causes of limb and joint pains.
Understand the normal postural variations in children.

Disorders of the musculoskeletal system can present Examination


in a variety of ways. The common presenting symp-
toms include: Physical examination can begin by observing the
child walking, if this can be done without distress.
Limb or joint pain. Important physical signs include:
Fever.
Fever: suggests bone or joint infection.
Important signs are: Skin rashes.
Limp. Range of movement.
Altered posture. Point tenderness or signs of inammation.
Point tenderness. Unequal leg length.
Reduced range of movement. Spinal abnormality, e.g. hairy patch.
Neurological signs: check tone, power and
tendon reexes.
LIMP Investigations
A limp is an abnormality of gait (the term applied Useful investigations may include:
to the rhythmic movement of the whole body in Imaging: X-rays, ultrasound of the joint.
walking). It can be painful or painless, and the cause Nuclear medicine: isotope bone scans.
varies with age (Fig. 6.1). Full blood count, acute phase reactants.
Blood cultures (if febrile).

The most common cause of an acute THE PAINFUL LIMB


limp in a well child is irritable hip.
The diagnoses not to miss are septic Pain in a limb can arise from the bone, joint or soft
arthritis or osteomyelitis. tissues. In the lower limbs, pain might be associated
with a limp (see above). Pain in a joint (arthralgia)
is considered separately.
History
The history should establish: Recurrent limb pain
Duration: chronic pain is unlikely to be caused So-called growing pains are common in the lower
by infection. limbs. Their features are listed in Fig. 6.2.
Any prodromal illness (e.g. sore throat) or An important rare cause of limb pain, especially
trauma. at night, is malignant deposits in the bone (e.g.
Presence and location of any pain. leukaemia).

37
Musculoskeletal problems

Causes of a limp Causes of acute monoarthralgia

Age group Cause Cause Clinical clues

All ages Trauma Septic arthritis Fever and inability to move


Septic arthritis/osteomyelitis
Irritable hip Recent cold
12 years Congenital dislocation of the hip
(developmental dysplasia of the hip) Haemophilia Easy bruising
Cerebral palsy
Juvenile idiopathic arthritis Chronic pain and swelling
310 years Transient synovitis (irritable hip)
Perthes disease Trauma Immediate symptoms--
Rarities: no chronicity
JIA
Leukaemia Fig. 6.3 Causes of acute monoarthralgia.
1115 years Slipped upper femoral epiphysis
OsgoodSchlatters disease
Rarities:
Bone tumours Causes of polyarthritis
JIA
Hysteria Type Cause

Fig. 6.1 Causes of a limp. Inflammatory Juvenile idiopathic arthritis


Systemic lupus erythematosus
Henoch-Schnlein purpura

Features of growing pains Infectious/reactive Viral


Mycoplasma
Common between 7 and 11 years of age Rheumatic fever
Occurs in evening and night
Predominantly lower limbs Fig. 6.4 Causes of polyarthritis.
Normal examination
Never:
Functional disability
Limp
presentation is acute or insidious, and whether one
Morning symptoms or several joints are involved. Causes of an acutely
painful joint are shown in Fig. 6.3.
Fig. 6.2 Features of growing pains.

Limb pain of acute onset


In a young infant this might present as pseudo-
Septic arthritis is a medical emergency
paralysis. Important causes include:
joint destruction can occur within 24 h if
Trauma. untreated. X-rays are not helpful in early
Osteomyelitis or septic arthritis. diagnosis and aspiration of the joint space is
Sickle-cell disease (painful crisis). indicated if septic arthritis is suspected.

Trauma is usually accidental (e.g. sports injury) but


non-accidental injury should also be a consider-
ation. Osteomyelitis usually presents with a painful, Polyarthritis might have an acute onset but is
immobile limb in a febrile child. The long bones more likely to run a chronic and relapsing course.
around the knee are the most common site of Causes to consider are shown in Fig. 6.4.
infection.

Inequalities of limb length


THE PAINFUL JOINT This is caused by shortening or overgrowth in one
or more bones in the leg. Causes include trauma,
Arthralgia usually reects inammation, i.e. arthri- neuromuscular disorders and congenital malforma-
tis. Diagnostic possibilities depend on whether the tions. Treatment is surgical.

38
Normal postural variants 6

A B

Genu valgum
(knock knees)

Genu varum
(bow legs) Pes planus
(flat feet)

Fig. 6.5 Normal postural variants: (A) genu varum (bow legs), (B) genu valgum (knock knees), (C) pes planus (at feet).
Note the medial longitudinal arch appears when standing on tiptoe.

B C

Fig. 6.6 Causes of intoeing: (A) metatarsus varus, (B) medial tibial torsion, (C) femoral anteversion.

Flat feet (pes planus): often present in


NORMAL POSTURAL VARIANTS toddlers.
Intoeing: metatarsus varus in infants, medial
These are common and most resolve without treat- tibial torsion in toddlers, femoral anteversion
ment (Fig. 6.5). They include: in children (Fig. 6.6).
Bow legs (genu varum): common in infants
Pathology should be suspected if there is:
and toddlers up to 2 years.
Knock knees (genu valgum): the physiological Rapid or severe progression.
knock-knee pattern is seen during the third and A positive family history.
fourth years. Asymmetry.

39
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Pallor, bleeding, splenomegaly 7
or lymphadenopathy
Objectives

At the end of this chapter, you should be able to


Assess a child with anaemia.
Understand the coagulation cascade.
Evaluate a child with excessive bleeding.
Evaluate a child with splenomegaly or hepatosplenomegaly.
Understand the common causes of lymphadenopathy and its evaluation.

In childhood, disorders of the blood or bone marrow History


often present with striking physical signs rather than
complex symptomatology. The pallor of anaemia is This should include enquiry about:
the most common sign but abnormal bruising or The presence of chronic diseases, especially
bleeding, enlargement of the spleen or liver, or a renal or prematurity.
propensity to infection can all reect an underlying Gastrointestinal symptoms.
haematological problem. Dietary history: adequate iron intake? Most
anaemia in childhood is due to iron deciency.
Family history: relatives with inherited disorders
PALLOR such as sickle-cell disease, thalassaemia or
hereditary spherocytosis
It is easy to miss mild degrees of anaemia, especially
in those patients with pigmented skin. Pallor is best
diagnosed by observing the conjunctiva and palmar
creases. Note that peripheral vasoconstriction also
It is sometimes difcult to elicit a family
causes pallor, e.g. shock.
history of inherited anaemias. A family
history of frequent blood transfusions is a useful
Anaemia pointer towards an inherited anaemia.
The history and physical examination will often
provide a good idea of the likely cause (Fig. 7.1).
Few symptoms will occur unless the haemoglobin Examination
decreases below 78 g/dL, except in acute blood
loss. Infants born preterm have a physiological
Age and ethnic group
anaemia at the age of 2 months that can reach as Causes of anaemia are very age dependent and
low as 7 g/dL. inherited anaemias show a racial preponderance:
Mean haemoglobin (g/dL) values in infancy and
Afro-Caribbean ancestry: sickle-cell disease.
childhood are:
Mediterranean and Asian ancestry: thalassaemia.
2 weeks 16.8 (13.020.0).
3 months 12.0 (9.514.5). Associated signs
6 months to 6 years 12.0 (10.514.0). Jaundice: suggests acute haemolysis.
712 years 13.0 (11.016.0). Petechiae or bruising: suggest marrow failure.

41
Pallor, bleeding, splenomegaly or lymphadenopathy

Fig. 7.1 Causes of anaemia in


infants and children. Causes of anaemia in infants and children

Cause Type

Decreased red cell production


Iron deficiency anaemia Nutritional
Occult blood loss (Meckels diverticulum)
Malabsorption (coeliac disease)

Haemoglobinopathy -thalassaemia

Marrow replacement Malignant diseaseacute leukaemia


Marrow aplasia

Chronic disease Renal failure, inflammatory disorders

Reduced red cell life span


(haemolytic anaemia)
Intrinsic red cell defects Abnormal membranespherocytosis
Abnormal haemoglobinsickle cell disease,
thalassaemia
Enzyme deficienciesG6PD (X-linked), pyruvate kinase
Immune-mediated:

Extrinsic disorders ABO, rhesus incompatibility


Auto-immune diseases
Bacterial infections
Malaria
Microangiopathyhaemolytic uraemic syndrome
Hypersplenism

Excessive blood loss


Gastrointestinal Hookworm infestation
Meckels diverticulum

Iatrogenic Excessive venesection in babies

Epistaxis Recurrent, severe

Menstruation

Splenomegaly: suggests haemolysis,


Red cell indices and film
haemoglobinopathy or marrow failure.
MCV (mean corpuscular volume):
Investigation Microcytic anaemia suggests iron deficiency, thalassaemia

The most important initial investigation is examina-


Macrocytic anaemia (normal in neonates) suggests folate,
vitamin B12 deficiency (rare)
tion of the peripheral blood (full blood count; FBC)
MCHC (mean corpuscular haemoglobin concentration):
to conrm reduced haemoglobin concentration Hypochromic anaemia suggests iron deficiency, thalassaemia
and document red cell indices (Fig. 7.2). Additional
The film may reveal:
valuable information from the FBC includes: Sickle cellssickle-cell disease
Microcytic, hypochromic cellsiron deficiency
Reticulocytes: an increase suggests haemolytic Spherocyteshereditary spherocytosis
anaemia; a decrease suggests marrow aplasia.
Pancytopenia: a reduction in all cell types Fig. 7.2 Red cell indices and lm.
suggests marrow failure or hypersplenism.
A peripheral blood lm can also reveal
Serum iron, ferritin and total iron-binding
abnormal cells (blasts) commonly seen in
capacity.
leukemias.
Coombs test: this is positive in haemolysis
Depending on the initial results, further investiga- caused by immune mechanisms.
tions to clarify the cause might include: Red cell folate, vitamin B12.

42
Bleeding disorders 7

Haemoglobin electrophoresis. thought to comprise a common pathway involv-


Red cell enzyme estimation: glucose-6- ing tissue factor activation, with a central role for
phosphate dehydrogenase (G6PD), pyruvate thrombin and membrane-associated complexes
kinase. (Fig. 7.3).
Bone marrow aspiration.
Clinical evaluation
The history and examination should answer the
BLEEDING DISORDERS following questions:
Is there a generalized haemostatic problem?
Normal haemostasis requires integrity of the coagu-
Is it inherited or acquired?
lation factors, functional platelets and their interac-
What is the likely mechanism: vascular,
tion with the vessels. Disorders of the coagulation
platelets, coagulation or a combination?
system may be hereditary or acquired. In the past,
the coagulation cascade was thought to contain Investigations will be required to establish the
intrinsic and extrinsic pathways; however, it is now precise nature of the underlying abnormality.

Fig. 7.3 Coagulation cascade: tests


and defects.

Injury to
endothelium

Test by:
Tissue factor activation Prothrombin time (PT, INR)
Complexes with factor e.g. vit K deficiency
VIIa, X and IX
Partial thromboplastin time
e.g. haemophilia

Forms factor Xa

Activates
thrombin

Test:
Thrombin time
Fibrinogen
FDP
Fibrinogen e.g. DIC
Fibrin

Platelet and
fibrin plug

Vasoconstriction Platelet
activation

43
Pallor, bleeding, splenomegaly or lymphadenopathy

History
Age of onset: inherited disorders usually present
in infancy but, if mild, may not be detected Bruisingnormal and abnormal:
until adulthood. Mobile toddlers commonly have
If the child has had a haemostatic challenge multiple bruises on shins but bruises
such as tonsillectomy without excessive in non-mobile infants need further evaluation.
bleeding then a bleeding disorder is Mongolian blue spots in infants can be mistaken
unlikely. for bruising.
Family history: note that up to one-third of Newborns often have petechiae around the face
cases of haemophilia are from spontaneous and forehead.
mutation.

Examination
The commonest clinical manifestation is excessive
bleeding into the skin but spontaneous bleeding
into other sites like nasal mucosa (epistaxis), gums, A petechial or purpuric rash in a febrile
joints (haemarthrosis) and the genitourinary tract child must raise the possibility of
(haematuria) can also occur. Spontaneous bleeding meningococcal sepsis.
from multiple sites suggests a generalized haemo-
static disorder.

Investigations
Laboratory investigation of a suspected bleeding
disorder initially includes:
Bleeding into skin and mucous
membranes: platelet or vascular Blood lm.
disorder. Renal and liver function.
Bleeding into muscles or joints: coagulation Platelet count: normal is 150450 109/L
disorder. (spontaneous bleeding can occur at counts
below 30 109/L).
Coagulation screen: prothrombin time,
activated thromboplastin time and thrombin
Manifestation of skin bleeding time. Further investigation for tissue factors
The terms used vary with the size of lesion. Test should be done by a tertiary haematological
small lesions using a transparent glass to see if they centre.
blanch. Failure to blanch indicates extravasated
blood. Causes of bleeding disorders
Petechiae: small red spots the size of a The causes are set out in Fig. 7.4 and arranged
pinhead. according to the underlying basic mechanism. Most
Purpura: conuent petechiae. causes are acquired:
Ecchymosis: a large area of extravasated blood
The most common vascular problem
(a synonym for a bruise).
encountered is HenochSchnlein purpura (see
Haematoma: extravasated blood that has
Chapter 1).
inltrated subcutaneous tissue or muscle to
Bruising with thrombocytopenia in a well child
produce a deformity.
is most commonly due to idiopathic
An important differential diagnosis of excessive thrombocytopenic purpura.
bruising is non-accidental injury. There are some Inherited coagulation disorders are uncommon
very important causes of a petechial/purpuric rash but haemophilia must be considered in a male
(see Chapter 1). infant or child with a bleeding tendency.

44
Splenomegaly 7

Fig. 7.4 Bleeding disorders in


Bleeding disorders in chidhood childhood.

Defect Inherited Acquired

Vascular defects Hereditary haemorrhagic HenochSchnlein purpura


telangiectasia (rare) Scurvy (vitamin C deficiency)
EhlersDanlos syndrome Cushings disease
(rare) Meningococcal septicaemia

Platelet defects
Thrombocytopenia Rare Immune-mediated:
purpura
Idiopathic thrombocytopenic
(most common)

Peripheral consumption:
Disseminated intravascular
coagulation (DIC)
Haemolyticuraemic syndrome

Marrow failure:
Aplastic anaemia
Acute leukaemia

Abnormal function Rare Drug-induced, e.g. aspirin,


dipyridamole

Coagulation defects Haemophilia A (factor VIII) Vitamin K deficiency:


Haemophilia B (factor IX, Haemorrhagic disease of newborn
Christmas disease) Malabsorption
Von Willebrand disease Liver disease

Drugs anti-coagulant therapy with


warfarin, heparin

It is important to rule out bleeding disorders


when considering bruising in the context of
non-accidental injury.
In sickle-cell disease:
Splenomegaly is present in early life
SPLENOMEGALY but splenic infarction subsequently
reduces the spleen in size.
In neonates and very thin children, the tip of the The immunological function of the spleen is
spleen is often palpable. The spleen can enlarge always impaired, regardless of size.
during acute infections and in various haematologi-
cal diseases. Enlargement of both liver and spleen
together suggests a different aetiology from that asso-
History
ciated with isolated splenomegaly (Figs 7.5 and 7.6).
Systems review: this might elicit symptoms
related to the many infective causes.
Family history: inherited anaemias, storage
disorders, e.g. Gauchers disease.
Differential diagnosis of a left-sided
abdominal mass:
Splenomegaly.
Examination
Renal masses: Wilms tumour, hydronephrosis. Note coexistent lymphadenopathy, hepatomegaly,
Neoplasia: neuroblastoma (non-renal), pallor (anaemia), fever or rash. In infectious mono-
lymphoma. nucleosis, care must be taken in palpating the spleen
because it can rupture.

45
Pallor, bleeding, splenomegaly or lymphadenopathy

Fig. 7.5 Causes of splenomegaly.

Infections Haematological
Viral: EBV, CMV Haemolytic anaemia: spherocytosis,
Bacterial: Septicaemia, typhoid G6PD deficiency
Protozoal: Malaria, toxoplasmosis, Haemoglobinopathy: -thalassaemia,
visceral leishmaniasis sickle-cell anaemia
Idiopathic thrombocytopenic purpura (10%)

Collagen diseases
Malignancy Juvenile chronic arthritis
Lymphoma, leukaemia Systemic lupus erythematosis

Fig. 7.6 Causes of


hepatosplenomegaly.
Infection Haematological
Congenital infections Haemoglobinopathy: -thalassaemia
Infectious mononucleosis
Hepatitis

Liver disease
Portal hypertension

Malignancy Storage disorders


Lymphoma Glycogen, lipid,
Leukaemia mucopolysaccharidosis

Investigations Haematological: FBC, blood lm, reticulocyte


count.
Abdominal ultrasound scan (USS). Malignancy: bone marrow aspiration.
Infections: monospot, blood cultures, lm for Liver disease: liver function tests (LFTs),
malaria parasites. hepatitis serology.

46
Lymphadenopathy 7

Causes of generalized lymphadenopathy Features of worrying lymph nodes

Cause Example Rapid growth


Skin ulceration
Infection Infectious mononucleosis Fixation to skin or fascia
Rubella >3 cm with hard consistency
Toxoplasmosis Greater than 3 cm for more than 6 weeks despite treatment
Cytomegalovirus
HIV infection Fig. 7.9 Features of worrying lymph nodes.
Malignancy Acute leukaemia
Lymphoma

Immunological JCA Rash: associated rash suggests viral


Sarcoidosis (rare)
Kawasaki disease exanthemata.
Atopic eczema Pets: toxoplasmosis or cat scratch fever.
Travel contacts and family history of TB.
Drugs: phenytoin, carbamazepine.
Fig. 7.7 Causes of generalized lymphadenopathy.

Examination
Causes of cervical lymphadenopathy Palpate all nodal sites: look for regional or general-
ized lymphadenopathy. Examine the nodes:
Type Features
Size: greater than 1 cm diameter is more likely
Acute, Reactive and secondary to local infection in
short duration throat or scalp: to be signicant. Small, mobile nodes are less
Cervical adenitisbacterial infection in gland likely to be signicant than large, rm, xed
Persistent, Reactive and secondary to local infection:
nodes.
non-inflamed Tuberculous adenitisTB, atypical mycobacteria Erythema and tenderness: suggest bacterial
Neoplasialymphoma, neuroblastoma adenitis.
Drainage region: ENT and scalp for cervical
Fig. 7.8 Causes of cervical lymphadenopathy. nodes.
Skin: infective lesions, atopic eczema and
exanthemata.
LYMPHADENOPATHY Abdomen: hepatosplenomegaly.

Also note systemic signs such as weight loss and


Lymph node enlargement, particularly in the cervi-
pallor.
cal region, is a common clinical problem in chil-
dren. Cervical lymph nodes are normally palpable
in many children and has to be distinguished from Investigations
pathological enlargement. The diagnosis is apparent in most children and
Local infection is the commonest cause of tran- further investigations are unnecessary in the follow-
sient regional lymphadenopathy but uncommon ing common clinical situations:
sinister causes of persistent or progressive lymph-
adenopathy do exist (Figs 7.77.9). Transient node enlargement with local
infection.
Lymphadenopathy in the context of
History diagnosed systemic illnesses such as rubella,
The history should establish: EpsteinBarr virus, atopic eczema and Kawasaki
disease.
Duration: less than 4 weeks in most infections;
more than 1 year less likely to be neoplastic. By contrast, lymphadenopathy presenting in the
Constitutional symptoms: e.g. weight loss, following clinical contexts requires investigation to
fever, night sweats. establish an underlying diagnosis.

47
Pallor, bleeding, splenomegaly or lymphadenopathy

Persistent signicant cervical Generalized lymphadenopathy


lymphadenopathy Constitutional symptoms and hepatosplenomegaly
Initial tests are: might or might not be present.

FBC: to determine infection. Initial tests


Chest X-ray: to check for TB, lymphoma. FBC plus differential.
Tuberculin skin test: if positive this suggests Monospot and EpsteinBarr IgM antibodies.
mycobacteria tuberculosis but weak false Chest X-ray.
positives can be caused by non-tuberculous Abdominal USS.
mycobacteria. Bone marrow aspiration might be necessary.
If malignancy is suspected, a lymph node biopsy Lymph node biopsy might be necessary.
might be indicated.
Lymphadenitis
Acutely infected nodes are tender with associated
redness and increased warmth. If untreated, they
Cervical nodes are quick to enlarge but can form an abscessindicated by the presence of
are slow to resolve with local infection. uctuance. An ultrasound of the node will help to
Consider TB or malignancy in persistent identify an abscess which may need surgical drain-
and progressive cervical lymphadenopathy. age. Uncomplicated lymphadenitis is treated with
antibiotics.

48
Short stature or 8
developmental delay
Objectives

At the end of this chapter, you should be able to


Understand the normal pattern of growth in children.
Take appropriate history and examine children with short stature.
Identify children with global and specic developmental delay.

An abnormal growth velocity as indicated by


GROWTH the height changing by more than the width of
one centile band over 12 years.
Four phases of growth are recognized:
1. Infantile phase (birth to 1 year): dependent on
nutrition.
2. Childhood phase (1 year to 5 years): dependent
It is important to observe the velocity of
on growth hormone.
growth over 12 years in an otherwise
3. Mid-childhood phase (5 years to puberty):
well child with short stature. If the
increased levels of adrenal androgens inuence
growth velocity is normal, further investigations are
growth.
unnecessary and parents can be reassured. The best
4. Pubertal phase: growth spurt caused by
way to do this is to plot the childs growth on the
increased levels of sex steroids.
centile chart to give a visual image of his/her growth.
Growth is assessed by measuring three specic
parameters:
Height (or length in children <18 months). The causes of short stature are shown in Fig. 8.1.
Weight.
Head circumference. History
Centile charts showing the normal range of values This should elicit information about:
for these measurements from before birth to adult- Early childhood illness and systemic disorders.
hood are available (see Part II). Problems with inad- Parental height: the genetic height potential is
equate weight gain (failure to thrive) and abnormal estimated by calculating the target centile range
head growth (microcephaly and macrocephaly) are (TCR) from the mid-parental height (MPH).
considered elsewhere. An approach to the evalua- Family history: inherited skeletal dysplasias.
tion of short stature is presented here. In preterm
infants the corrected age (chronological age minus
number of weeks preterm) should be used until 2
years of age.
To estimate the adult height potential,
Short stature calculate the mid-parental height (MPH):
Fathers height plus mothers height
A pragmatic denition of short stature requiring
divided by 2.
further evaluation is:
Then adjust for the sex of the child:
A height below the 0.4th centile for age. Boys: add 7 cm.
A predicted height less than the mid-parental Girls: subtract 7 cm.
target height.

49
Short stature or developmental delay

Identify the mid-parental centile, i.e. the centile Examination


nearest to the MPH. The target centile range (TCR)
Examine the following:
is encompassed by MPH:
10 cm in boys. Height: measure accurately with a wall-
8.5 cm in girls. mounted, calibrated stadiometer.
Growth velocity: a minimum of two
measurements, 6 months apart is required.
Causes of short stature Adjust to cm/year and plot at midpoint in time.
Dysmorphic features: these might identify a
Familial short stature syndrome (see Hints & Tips).
Constitutional delay of pubertal growth spurt Weight (see Hints & Tips).
Visual elds and fundi: might indicate a
Endocrine disorders:
pituitary tumour.
Growth hormone deficiency
Hypopituitarism Stage of puberty.
Cushing
Hypothyroidism
syndrome/steroid excess
An approach to the evaluation of short stature is
Chromosomal disorders/syndromes: shown in Fig. 8.2.
Turner syndrome
SilverRussell syndrome

Skeletal dysplasias: Investigations


Achondroplasia
Investigations that might be of value include the
Emotional/psychosocial deprivation following:
Chronic illness:
Congenital heart disease Bone age: estimated from X-rays of the left wrist
Cystic fibrosis (delayed skeletal maturity in constitutional
Cerebral palsy
pubertal delay).
Chronic renal failure
Karyotype: chromosomal analysis to identify
Fig. 8.1 Causes of short stature. Turner syndrome (45, X0) in short girls.

Fig. 8.2 Short stature algorithm.


Short stature

On target for parental height


normal physical examination

Short for parents Yes

Looks unusual Looks normal Monitor height


over 9 months
Growth velocity
Dysmorphic Disproportionate

Low
Syndrome Achondroplasia
MPS
Normal Thin Fat

Low birth weight, malnutrition Chronic illness Endocrine


Constitutional delay Psychosocial deprivation cause

50
Developmental delay 8

Skeletal survey: in disproportion (skeletal


dysplasias). DEVELOPMENTAL DELAY
Endocrine investigations: thyroid function tests Normal development depends on genetic potential
(T4, TSH) and growth hormone (secretion is and on the environment: nature and nurture. There
pulsatile so a provocation test, e.g. exercise or is a wide variation in normal rates of development
insulin-induced hypoglycaemia, is necessary to in all spheres. Delay can be global or specic; normal
identify deciency). development is described in Part II.
Skull X-ray: for suspected craniopharyngioma. Delay can present through:

MRIlooking at pituitary Parental concern.


Routine surveillance.
Concern of teacher, health visitor, etc.
A list of warning signs shown in developmental
Syndromes associated with short stature: delay by age is given in Fig. 8.3.
Turner syndrome: neck-webbing,
wide-spaced nipples, low hairline in a girl.
PraderWilli syndrome: obesity, hypotonia and,
in boys, small genitals.
Endocrine causes of short stature are
Skeletal dysplasias: disproportionate limbs and
often associated with increased weight,
trunkshort limbs (achondroplasia) or short
e.g.:
trunk (mucopolysaccharidosis; MPS).
Hypothyroidism.
Growth hormone deciency.
Steroid excess.
Height should be monitored over 612 months
in response to parental concern regardless of current
centile.

Warning signs of developmental delay by age


Development is assessed in four main
Year Sign
areas:
Gross motor.
First Vision and ne motor.
8 weeks Not smiling in response
Poor eye contact Hearing and speech.
Head lag Social behaviour.
Silent babyno coos, gurgles

8 months Poor interaction


Not sitting with support
Not babbling Global delay
Second An intellectually impaired child is delayed in all
18 months Not recognizing own name
Not walking three steps alone
aspects of development, but not all children with
Not using first words general delay are intellectually impaired; 40% will
have a chromosomal abnormality, 510% will have
24 months Not giving/receiving affection
Unable to build a three-brick tower developmental malformations and 4% will have a
Not linking two words metabolic cause.
Third Unable to play
Unsteady gait History
Not using more than 50 words
This should encompass:
Birth history: details of pregnancy and birth
Fig. 8.3 Warning signs of developmental delay by age. including prematurity and hypoxia.

51
Short stature or developmental delay

Family history: of learning disability. Specic developmental delay


Developmental milestones.
Social history: risk factors, e.g. psychosocial Two common and important examples of delayed
deprivation. development in specic areas are walking and
speech.
Examination
Delayed walking
You should examine the following:
The percentage of children who are walking unsup-
Developmental assessment. ported is:
Appearance: dysmorphic features in syndromes
associated with delay, e.g. Down syndrome, 50% by 12 months.
Williams syndrome, fragile X syndrome. 90% by 15 months.
Head circumference: microcephaly. Further assessment is indicated if a child is not
walking unsupported by age 18 months. Many will
Investigations be normal late walkers, especially if a bottom shuf-
These are directed towards identifying a specic er, but a small percentage will have an underlying
aetiology (Fig. 8.4) and will include: problem (Fig. 8.5).

Karyotype: Down syndrome, fragile X Examination


syndrome.
Thyroid function tests. Hips: signs of dislocation (waddling gait, leg
Congenital infection screen. length discrepancy, limited abduction).
Plasma and urine amino and organic acids. Tone, power, and tendon reexes in
Brain imaging: MR spectroscopy. all limbs.
Locomotion: commando crawler or bottom
shufer?

Investigations
If indicated:
It is important to distinguish
developmental delay from actual Imaging of hips or spine.
regression. Loss of previously acquired Creatine kinase for Duchenne muscular
skills suggests a serious inherited neurodegenerative dystrophy.
disorder.
Speech and language delay
The development of normal speech and language
requires:
Causes of global developmental delay Adequate hearing.
Cognitive development.
Type Causes Coordinated sound production.
Perinatal Hypoxic-ischaemic
Intracranial haemorrhage
Teratogens

Metabolic Hypothyroidism Causes of late walking


Inborn errors of metabolism
Normal variants Organic causes
Infection Meningitis
Encephalitis
Familial Cerebral palsy
Bottom shuffler Congenital dislocation of the hip
Genetic Chromosome disorders
Commando crawler Duchenne muscular dystrophy (boys)
Neurodegenerative disease TaySachs syndrome
Adrenoleucodystrophy

Fig. 8.4 Causes of global developmental delay. Fig. 8.5 Causes of late walking.

52
Developmental delay 8

Speech refers to the meaningful sounds that The causes of delay in speech and language devel-
are made, whereas language encompasses the opment include:
complex rules governing the use of these sounds for
Hearing impairment.
communication. Language can be further divided
Environmental factors: lack of stimulus.
into language comprehension and language expres-
Global delay: the most common cause.
sion, and independent delays can occur in either
Psychiatric disorders: autism.
aspect. As might be expected, the development
Familial.
of language is highly dependent on general intel-
lectual development. It is worth distinguishing between delay and actual
disorders of speech and language such as stam-
mering, dysarthria due to mechanical problems
(e.g. cleft palate) or neuromuscular problems (e.g.
cerebral palsy).
Normal speech and language
development:
6 months: babbles.
12 months: says mama or dada, understands
simple commands and responds to name.
18 months: single words with meaning.
2 years: speaks in phrases. Check the hearing in any child with
4 years: conversation. delayed speech.

53
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Neonatal problems 9
Objectives

At the end of this chapter, you should be able to:


Understand the common feeding problems in newborns.
Dene respiratory distress in newborns.
Identify the common causes of neonatal respiratory distress.
Identify ts in newborns.
Understand the common congenital malformations in newborns.

Important presenting problems in the term newborn Breastfeeding


infant include:
Breastfeeding should be encouraged by antenatal
Feeding difculties. education and then supported until it is established.
Vomiting. Potential problems include:
Jaundice.
Breathing difculties. Latching on: chin forward and head tilted back
Seizures. (the babys, not the mothers!). The areola
Congenital malformations. should be in the babys mouth as this
Ambiguous genitalia. encourages successful feeding and avoids
damage to the nipple.
Cracked nipples: occurs commonly and is
FEEDING DIFFICULTIES more likely if the baby does not latch
on well.
Difculties in establishing feeding can occur with
Breast engorgement: prevented by demand
both breast- and bottle-fed newborn infants.
feeding and alleviated by expression after
feeding.
Weight gain in infants Intestinal hurry: frequent loose stools are
All babies, except those babies with intrauterine common on day 4 or 5 when the supply of
growth retardation, lose weight in the rst week. milk is plentiful. This is normal.
Full term infants should regain their birth weight by
day 710 and preterm babies by day 14.
Bottle-feeding
Problems that might occur include:

Reluctance to feed in an infant who has Incorrect reconstitution: bowel problems and
previously fed normally might indicate electrolyte abnormalities.
severe disease. It is also important to Inadequate sterilization: gastroenteritis.
note the quantity and frequency of feeds and plot
the babys weight on a centile chart Milks differ in composition and age-specic milks
should be used.

55
Neonatal problems

VOMITING

Babies often regurgitate (posset) small amounts of Blood-stained vomit in the newborn
milk during and between feeds. This is of no patho- might be due to:
logical signicance and should not be confused with Swallowed maternal blood
vomiting (the forceful expulsion of gastric contents predelivery or from a cracked nipple.
through the mouth). Trauma from a feeding tube.
Vomiting in the newborn might reect systemic Haemorrhagic disease of the newbornvitamin
disease or intestinal obstruction. It is important to K deciency.
establish whether the vomit is:

Milk.
Bile-stained.
Blood-stained. JAUNDICE
Frothy, mucoid.

Important causes are listed in Fig. 9.1. Bile-stained


Neonatal jaundice
vomit suggests intestinal obstruction. Blood in the Physiological jaundice occurs in most newborns,
vomit might be of maternal or infant origin. This especially preterms. A combination of increased
can be differentiated by alkali denaturation test (Apt red cell breakdown and immaturity of the hepatic
Test). Plain abdominal X-ray is the most useful enzymes causes unconjugated hyperbilirubinaemia.
investigation (supine and lateral decubitus views; It is exacerbated by dehydration, which can occur if
Fig. 9.2). establishment of feeding is delayed.

Fig. 9.1 Vomiting in the newborn.


Vomiting in the newborn

Cause Features/examples

Intestinal obstruction Small bowel:


Duodenal atresia/stenosis
(30% have Down syndrome)
Malrotation with volvulus
Meconium ileus
(cystic fibrosis)
Large bowel:
Hirschsprungs disease
Rectal atresia

Tracheo-oesophageal fistula Frothy mucoid vomiting occurs


if a feed is given

Infections: Often non-specific


Urinary
Gastroenteritis
Septicaemia
tract infection
Meningitis

Necrotizing enterocolitis Preterm infants

Raised intracranial pressure Bulging fontanelle

Congenital adrenal hyperplasia Ambiguous genitalia in a


female infant

56
Jaundice 9

Onset of jaundice in the rst 24 hours of life is of bilirubin in the basal ganglia). Evaluation of per-
always pathological; the causes are listed in Fig. sistent conjugated hyperbilirubinaemia is important
9.3. Recognition and treatment of severe neonatal to allow early (<6 weeks) diagnosis and treatment
unconjugated hyperbilirubinaemia is important to of biliary atresia.
avoid kernicterus (brain damage due to deposition

Onset of jaundice in the rst 24


hours of life is always pathological.
Consider biliary atresia in an infant
with persistent neonatal jaundice due to
conjugated hyperbilirubinaemia and pale stools
(rare but treatable).

Denition of physiological jaundice:


Onset after 24 hours of birth.
Resolves within 2 weeks.
More than 85% unconjugated.
Total bilirubin <350 mol/L.

Fig. 9.2 Abdominal X-ray in duodenal atresia showing a


double bubble from distension of the stomach and
duodenum. Air is absent distally.

Fig. 9.3 Causes of neonatal


Causes of neonatal jaundice jaundice.

Onset Cause

Less than 24 hours old Excess haemolysis:


Immune-mediatedrhesus or ABO incompatibility
Intrinsic RBC defectsG6PD, pyruvate kinase
deficiency, or hereditary spherocytosis
Congenital infections

Between 24 hours and 2 weeks old Physiological jaundice


Breast milk jaundice
Infection, e.g. UTI
Excess haemolysis, bruising, or polycythaemia

Persistent jaundice after 2 weeks old Unconjugated:


Breast milk jaundice
Infections, e.g. UTI
Excess haemolysis, e.g. ABO incompatibility,
G6PD deficiency
Hypothyroidism (screened for in newborn)
Galactosaemia
Conjugated (>15% of total bilirubin):
Biliary atresia
Neonatal hepatitis

57
Neonatal problems

is often associated with birth asphyxia. Meconium


BREATHING DIFFICULTIES should be cleared from the oropharynx and air-
way if the baby is oppy with poor respiratory
In the newborn, breathing difculties are referred to efforts, but not if the baby is active and vigorous.
as respiratory distress. The signs of respiratory dis- Inhalation of meconium results in bronchial
tress are: obstruction and collapse, chemical pneumonitis
Tachypnoea: respiratory rate over 60/min. and secondary infectionall leading to respiratory
Recession: subcostal or intercostal. distress. There is also a high incidence of air-leak
Nasal aring. (pneumothorax, pneumomediastinum) and pulmo-
Expiratory grunting. nary hypertension.
Cyanosis.
Pneumonia
Common breathing difculties Risk factors include premature labour and prolonged
The most common cause of breathing difculties in rupture of the membranes (over 24 hours). Group
the newborn is the respiratory distress syndrome due B streptococcal infection is an important cause of
to surfactant deciency, a condition largely conned early onset pneumonia.
to preterm infants. The major causes of respiratory
distress in term infants are shown in Fig. 9.4. Pneumothorax
Pneumothorax occurs spontaneously in about 1%
Respiratory distress syndrome (RDS) of term infants and resolves spontaneously. The
Only 1% of cases of RDS occurs in the term neonate. cause is mostly iatrogenic in ventilated babies. Diag-
Such infants are often difcult to ventilate but do nosis is by CXR and transillumination in neonates.
respond to surfactant therapy, in a similar manner
to the preterm with RDS. Persistent fetal circulation
High pulmonary vascular resistance causes right to
Transient tachypnoea of the
left shunting at both atrial and ductal levels with
newborn (TTN) severe cyanosis. It can occur as a primary disorder
TTN is believed to be caused by a delay in the normal but is more commonly a complication of birth
reabsorption of the lung uid at birth and is more asphyxia, meconium aspiration or respiratory dis-
common after caesarean section. The chest X-ray tress syndrome. A CXR might show pulmonary
(CXR) might show a streaky appearance with uid oligaemia. Diagnosis is suggested by differences in
in the horizontal ssure; it usually resolves within PaO2 on pre- and postductal arterial blood gases
48 hours. (ABGs) and conrmed by echocardiography.

Meconium aspiration Diaphragmatic hernia


Approximately 10% of term neonates pass meco- In this uncommon malformation (1 : 4000 births),
nium before birth; it is rare in preterm babies. It a hole in the diaphragm (usually on the left) allows
the abdominal contents to herniate into the chest.
Most are diagnosed on antenatal ultrasound scan.
Initial resuscitation involves early intubation and
Causes of respiratory distress in term infants
nasogastric aspiration (to avoid ination of the
bowel). Surgical repair is then undertaken once the
Pulmonary Non-pulmonary
neonate is stable. If not diagnosed on antenatal
Transient tachypnoea of newborn Septicaemia ultrasound, it usually presents with failure to
Pneumonia Severe anaemia
Meconium aspiration Congenital cardiac disease respond to resuscitation at birth. The apex beat and
Respiratory diaphragmatic hernia heart sounds are displaced to the right with poor air
Choanal atresia
Pneumothorax
entry on the left. The relatively high mortality is
accounted for by the inevitable pulmonary hypopla-
Fig. 9.4 Causes of respiratory distress in term infants. sia due to compression of the fetal lung.

58
Congenital malformations 9

Congenital malformations of the lung The perinatal and birth history together with clinical
examination will often indicate the cause.
Respiratory distress may arise from various congeni-
tal malformations, like pulmonary hypoplasia,
sequestration, cystic adenoid malformation of the
Initial investigations
lung, congenital lobar emphysema, etc. Blood glucose, electrolytes, Ca2+, Mg2+.
Cerebrospinal uid (CSF) analysis for
infection.
Chylothorax Cranial ultrasonography for haemorrhages.
This is another rare cause of respiratory distress and
As indicated:
occurs due to accumulation of lymphatic uid in the
pleural cavity, either spontaneously due to a devel- Inborn error of metabolism: blood ammonia,
opmental anomaly of lymphatic drainage or iatro- lactate and amino acids, urine amino acids,
genic from birth trauma or thoracotomy. organic acids, IV pyridoxine test.
Congenital infection screen.
Cranial imaging: ultrasonography is widely
used in neonatal units; computed tomography
NEONATAL SEIZURES (CT) or magnetic resonance imaging (MRI)
(more sensitive) are used if a cause could not
Seizures are more common in the neonatal period be identied.
than any other time of life because the neonatal
brain is mostly excitatory. The manifestations of A detectable cause is present in the majority and
neonatal seizures are rather different from those in varies with the time of onset (Fig. 9.5). The most
older children and it can be difcult to distinguish common causes are neonatal encephalopathy, intra-
true seizures from normal baby movements. cranial haemorrhage, CNS infection and congenital
abnormality.

CONGENITAL MALFORMATIONS
Neonatal episodes that are not seizures
include: Up to 70% of major congenital malformations can
Jitteriness: the movement is a tremorrhythmic now be detected antenatally using ultrasound and
movements of equal rate and amplitude (in can affect any of the major organ systems. Some of
seizures, clonic movements have a fast and slow the most important are described below.
component). There are no ocular phenomena. It
is sensitive to external stimuli and is stopped by
holding.
Benign myoclonus: shock-like jerks when asleep.
Stretching, sucking movements. Causes of neonatal seizures

Hypoxia

Electrolyte and metabolic Hypoglycaemia


abnormalities Inborn errors of metabolism
The main types of seizure are:
CNS Haemorrhage
Infection
Subtle seizures: eye deviation, apnoeas, Structural abnormality
autonomic phenomenas and oral movements.
Clonic seizures: seen as focal rhythmic and Drug withdrawal Opiates
Benzodiazepines
slow jerking; generalized clonic seizures are not
seen in neonates. Genetic disease Neurocutaneous diseases
Myoclonic seizures: rapid isolated jerks. Hyperbilirubinaemia Bilirubin encephalopathy
Tonic seizures: manifest as exor or extensor
posturing. Fig. 9.5 Causes of neonatal seizures.

59
Neonatal problems

Pierre Robin anomaly


Congenital refers to any This is an association of micrognathia, posterior dis-
condition present at birth. The placement of the tongue and midline cleft of the soft
cause might be genetic, palate. Prone positioning maintains airway patency
environmental, infectious or until growth of the mandible is established. The
idiopathic. Parents are often worried if a condition is cleft is surgically repaired.
the result of something they did during pregnancy
and also the chances of its recurrence in subsequent Gastrointestinal disorders
children. It is important to provide genetic Oesophageal atresia
counselling in the presence of such malformations.
The incidence is 1 : 3500 live births. A tracheo-
oesophageal stula (TOF) is usually present (Fig.
9.6). As the fetus is unable to swallow during intra-
uterine life, there is associated polyhydramnios.
Craniofacial disorders Diagnosis should be established before the rst feed
by attempting to pass a feeding tube into the stomach
Cleft lip and palate
and checking its location by X-ray. Forty per cent of
This affects about 1 : 1000 babies. It manifests as: cases have other associated abnormalities, e.g. as
Cleft lip alone: 35%. part of the VACTERL association:
Cleft lip and palate: 25%. Vertebral.
Cleft palate alone: 40%. Anorectal.
Inheritance is polygenic but some are associated Cardiac.
with maternal anticonvulsant therapy. A cleft lip is Tracheo-oesophageal.
usually diagnosed at the 18- to 20-week scan but Renal.
isolated cleft palates are difcult to diagnose ante- Limb (radial).
natally. Some affected infants can be breastfed and
special long teats or other feeding devices might Abdominal wall defects
help bottlefed infants. Surgical repair is carried out Gastroschisis (1 : 5000)
at 612 months of age on the palate, and either early The bowel protrudes without any covering sac
(rst week) or late (3 months) on the lip. through a defect in the anterior abdominal wall

Blind end of
oesophagus

Trachea

TOF

Stomach

85% 10% 5%

Atresia with TOF Atresia without TOF H-type fistula without atresia

Fig. 9.6 Oesophageal atresia and tracheo-oesophageal stula (TOF).

60
Congenital malformations 9

adjacent to the umbilicus. This is usually an isolated Spina bida occulta


anomaly. The vertebral arch fails to fuse. There might be an
overlying skin lesion such as a tuft of hair or small
Exomphalos (1 : 2500)
dermal sinus. Tethering of the cord (diastomyelia)
The abdominal contents herniate through the
can cause neurological decits with growth.
umbilical ring and are covered with a sac formed
by the peritoneum and amniotic membrane. It Meningocele
is often associated with other major congenital This is uncommon (5% of cases). The smooth,
abnormalities. intact, skin covered cystic swelling is lled with CSF.
There is no neurological decit and excision and
Neural tube defects closure of the defect is undertaken after 3 months.
These arise from failure of fusion of the neural plate Myelomeningocele
in the rst 28 days after conception. The incidence This accounts for more than 90% of overt spina
in the UK has fallen dramatically in the last 25 years bida. These are usually open, with the unfused
because of improved maternal nutrition, folic acid neural plate, exposed meninges and leaking CSF.
supplementation and better antenatal screening. Neurological decits are always present and can
include:
Motor and sensory loss in the lower limbs.
Neuropathic bladder and bowel.
Folic acid supplements should ideally be In addition, there is often scoliosis and associated
taken preconception and all pregnant hydrocephalus due to the ArnoldChiari malforma-
women are advised to take them during tion (herniation of the cerebellar tonsils through the
the rst trimester. foramen magnum). Surgery is for preventing infec-
tion and not to restore neurological function.

Congenital talipes equinovarus


There are three main types:
(club foot)
Spina bida occulta.
The entire foot is xed in an inverted and supi-
Meningocele.
nated position (Fig. 9.8). This should be distin-
Myelomeningocele.
guished from positional talipes, in which the
They are usually in the lumbosacral region (Fig. deformity is mild and can be corrected with passive
9.7). manipulation.

A B C
Hairy patch Skin and dura Exposed neural plate
on skin Absent posterior and meninges
vertebral arch Pia and
arachnoid

CSF

Spinal cord Skin

Nerve
root

Fig. 9.7 Neural tube defects. Spina bida occulta (A); meningocele (B); myelomeningocele (C).

61
Neonatal problems

Congenital adrenal hyperplasia (CAH)


leading to virilization of a female
Thin calf muscles
infant is the most common cause of
ambiguous genitalia.
In two-thirds of children with CAH, a life-
Heel rotated threatening, salt-losing adrenal crisis occurs at
inwards (varus) 13 weeks of age requiring urgent IV treatment
and plantar
flexed (equinus) with saline and glucose. This might be the rst
indication in boys.

Forefoot Foot inverted and


adducted supinated and is short
Establishing the denitive
Fig. 9.8 Talipes equinovarus (club foot). cause of ambiguous genitalia
takes time and it is important
not to attempt to guess the
future sex of rearing. Parents also need to be
reassured that the baby will be either male or female
and not intersex, though it may take some time to
determine that. Expert counselling is required.
Features of talipes equinovarus:
1.5 per 1000 live births.
Male to female ratio: 2 : 1.
Examination should include measurement of the
50% bilateral.
blood pressure (adrenal problem). Investigations
Multifactorial inheritance.
will include:
Associated with oligohydramnios, congenital hip Urgent chromosomal analysis-karyotype.
dislocation and neuromuscular disorders, e.g. Ultrasound imaging of pelvic organs and
spina bida. adrenal glands.
Electrolyte and endocrine investigations
(17-hydroxyprogesterone is increased in CAH).
The chromosomal sex does not necessarily deter-
mine the sex of rearing. In many intersex conditions,
AMBIGUOUS GENITALIA it is preferable to raise the child as a female because
it is easier to fashion female external genitalia than
On occasion, it is not possible to give an immediate to create a functioning penis.
answer to the question Is it a boy or a girl? The
most common cause of ambiguous external genita- Further reading
lia is congenital adrenal hyperplasia (CAH) leading Levene M, Evans D. Neonatal seizures. Archives of Disease in
to a virilized female (see Chapter 21). Childhood. Fetal Neonatal Edition 1998; 78:F70F75.

62
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Infectious diseases 10
and immunodeciency
Objectives

At the end of this chapter, you should be able to


Differentiate among the common viral exanthems.
Understand the common infectious diseases affecting children.
Identify the symptoms and signs of Kawasaki disease.
Know the common causes of immunodeciency in children.

Despite the spectacular successes achieved by public Measles rst disease


health measures and immunization programmes in
Incidence and aetiology
preventing infectious diseases, these remain a major
Measles is caused by infection with a single-stranded
cause of mortality and morbidity in childhood:
RNA virus of the Morbillivirus genus. The incidence
In the developing world, 12 million children in England and Wales declined dramatically after
under 5 years of age die each year from the vaccination was introduced (1968), from a pattern
combined effects of malnutrition and infections of epidemics every 2 years, with up to 800 000 cases
such as gastroenteritis, pneumonia, measles and a year in the 1960s, to 50 000100 000 cases a year
malaria. in the 1980s. Following the introduction of the
In the developed world, major diseases such as MMR (measles, mumps, rubella) vaccination in
diphtheria and polio have been effectively 1988, notications fell further to just 10 000 cases
eliminated, and the infection rates of others in 1993. However, outbreaks are now being seen
such as invasive disease caused by Haemophilus because the immunization rate fell after public con-
inuenzae type B, measles, mumps, rubella and cerns about the safety of MMR vaccination.
pertussis are greatly reduced.
Clinical features
In the UK there has been a resurgence of many of Fever, cough, coryza and conjunctivitis are followed
these diseases due to a reduction in immunization (in some cases) by the pathognomonic Kopliks
coverage following adverse media reports on their spots on the buccal mucosa and, after 3 or 4 days,
safety. The worldwide resurgence of tuberculosis by an erythematous maculopapular rash. The rash
(TB), together with the growing impact of human spreads downward from the hairline to the whole
immunodeciency virus (HIV) infection in child- body, becomes blotchy and conuent and might
hood, leaves no room for complacency. desquamate in the second week.
Measles is highly infectious. Transmission is by
droplet spread and the incubation period is about
VIRAL INFECTIONS 10 days. Children should stay off school for 1 week
after appearance of the rash.
Measles is very dangerous in immunocompro-
Viral exanthems mised children, such as those in remission from
The term exanthem is applied to diseases in which acute leukaemia or with HIV. These children are
a rash is a prominent manifestation. Classically, six susceptible to giant cell pneumonia and encephali-
exanthems with similar rashes were described. They tis. In developing countries, malnutrition and par-
are numbered in the order in which they were ticularly vitamin A deciency impairs immunity and
described and are listed in Fig. 10.1. The second renders measles a more severe disease. It is esti-
disease is, of course, bacterial in origin and the mated that up to 2 million children in developing
fourth disease is no longer recognized as an entity. countries die annually from measles.

65
Infectious diseases and immunodeciency

Viral exanthems Complications of measles

Pathogen Giant cell pneumonia


Conjunctivitis and keratitis
First Measles Paramyxovirus Middle ear infection
Secondary gastrointestinal infections
Second Scarlet fever Group A -haemolytic Encephalitis
streptococcus Subacute sclerosing panencephalitis

Third Rubella Togavirus Fig. 10.2 Complications of measles.


Fourth Dukes disease --

Fifth Erythema infectiosum Parvovirus B19

Sixth Roseola infantum Human herpesvirus 6 Rubella (German measles)


This mild childhood disease is caused by infection
Fig. 10.1 Viral exanthems.
with the rubivirus. Its importance lies in the devas-
tating effect maternal infection in early gestation has
Complications on the fetus.
Acute complications include febrile convulsions,
otitis media, tracheobronchitis and pneumonia due Clinical features
either to the primary virus infection or bacterial Infection is subclinical in up to half of infected indi-
superinfection (Fig. 10.2). Rarely, severe encephali- viduals. After an incubation period of 1421 days,
tis occurs (1 : 5000 cases) about 8 days after onset of a low-grade fever is followed by a pink-red maculo-
the illness. The mortality is 15% and severe neuro- papular rash, which starts on the face and spreads
logical sequelae occur in 40% of survivors. (Sub- rapidly over the entire body. The rash is eeting and
acute sclerosing panencephalitis, SSPE, is a very rare might have gone entirely by the third day. General-
immune-mediated neurodegenerative disease that ized lymphadenopathy, particularly affecting the
can occur 710 years after measles.) suboccipital and postauricular nodes, is a promi-
Diagnosis nent feature.
Diagnosis can be conrmed by detection of specic
IgM in serum samples ideally taken from 3 days Complications
after the appearance of the rash. The disease is Complications are unusual in childhood but include
notiable. arthritis (typically affecting the small joints of the
hand), encephalitis and thrombocytopenia.
Management
Treatment is symptomatic. Diagnosis
Diagnosis is clinical and differentiation from other
viral exanthems is often difcult. In circumstances
in which it is important, detection of rubella-specic
There is a lot of parental IgM in the saliva or serum is necessary to conrm
anxiety regarding MMR the diagnosis.
vaccination and its association
with autism. However there is Prevention (immunization)
no good evidence to suggest such a relation. The A live, attenuated vaccine has been available for
apparent relation between MMR vaccination and many years. Since 1988, this has been given as part
the onset of autism reects the natural history of of the MMR vaccine to all children at 13 months of
autism since that is the age group when its clinical age and a booster between 3 and 5 years of age.
features are rst noticed. Parents must be reassured Vaccine failure is rare and, in most people, it pro-
about the safety of MMR and its benets outweigh vides lifelong protection. The presence of IgG, spe-
any potential adverse effects. cic for rubella, indicates immunity as a result of
prior infection or immunization.

66
Viral infections 10

Congenital rubella Erythema infectiosum or slapped cheek


Incidence and diagnosis disease fth disease
The risk and extent of fetal damage is mainly This is caused by infection with parvovirus B19, a
determined by its gestational age at the onset of small DNA virus that is the only parvovirus patho-
maternal infection. In the rst 810 weeks the risk genic to humans. Transmission can occur via respi-
is high; beyond 18 weeks gestation the risk is ratory secretions, from mother to fetus, and by
minimal. transmission of contaminated blood products.
Maternal infection at up to 10 weeks gestation
confers a 90% risk of some degree of damage that Clinical features
is often severe and includes deafness, congenital Asymptomatic infection is common. Erythema
heart disease and cataracts. Between 13 and 16 infectiosum describes the most common disease
weeks gestation, there is a 30% risk of hearing pattern of fever followed a week later by a charac-
impairment. Although congenital rubella is now teristic rash. This starts as a red appearance on the
rare in the UK (14 cases notied in the period 1991 face (hence the name slapped-cheek disease) and
1994), the diagnosis is worth consideration in any progresses to a symmetrical lacy rash on the extremi-
growth-retarded newborn or child with unexplained ties and trunk.
sensorineural deafness. The virus suppresses erythropoiesis for up to 7
days. In children with haemolytic anaemia, such as
Clinical features sickle-cell disease or hereditary spherocytosis, par-
Clinical features of congenital rubella are shown in vovirus infection can cause an aplastic crisis. Mater-
Fig. 10.3. nal infection during pregnancy can be transmitted
Management to the fetus and causes hydrops fetalis (due to fetal
All pregnant women and women contemplating anaemia and myocarditis), fetal death or spontane-
pregnancy should be screened for antirubella IgG. ous abortion.
Immigrants to the UK from countries where rubella
Diagnosis and management
vaccination is not routine are at particular risk of not
Diagnosis is clinical, but if conrmation is im-
being immune. Women found to be seronegative
portant (e.g. in pregnancy), specic IgM can be
on antenatal screening receive immunization after
detected 2 weeks after exposure. Management is
delivery.
symptomatic.
Pregnant women exposed to rubella should be
tested for antirubella IgG and IgM regardless of
previous history or serological testing. A high Sixth disease: roseola infantum
likelihood of congenital rubella infection early in Roseola infantum is caused by infection with human
pregnancy is an indication for offering termination herpesvirus (HHV)-6 or HHV-7.
of the pregnancy.
Clinical features and diagnosis
Most children acquire the infection between the age
of 3 months and 4 years; 65% are seropositive by 1
Clinical features of congenital rubella year of age. There is sudden onset of a high fever
(>39C) with irritability lasting for 36 days. The
Growth retardation fever then falls abruptly and a widespread maculo-
Hepatosplenomegaly
Congenital heart disease
papular rash appears on the face, neck and trunk.
Patent ductus arteriosus Other common features include cervical lymphade-

Eye
Pulmonary stenosis nopathy, cough and coryza. Up to one-third of
Glaucoma febrile convulsions in children <2 years of age are
Cataract caused by HHV-6.

Ear
Retinopathy
Diagnosis is clinical and treatment supportive
Sensorineural deafness
Rare complications include aseptic meningitis, ence-
Fig. 10.3 Clinical features of congenital rubella. phalitis, hepatitis and massive lymphadenopathy.

67
Infectious diseases and immunodeciency

Fig. 10.4 Human herpesviruses


(HHV) and their diseases. Human herpesviruses (HHV) and their diseases

Virus Disease

HHV-1 Herpes simplex virus 1 Oral infection and encephalitis

HHV-2 Herpes simplex virus 2 Neonatal and genital infection

HHV-3 Varicella zoster Chickenpox and shingles

HHV-4 Epstein-Barr virus Glandular fever

HHV-5 Cytomegalovirus Congenital infection and in


immunosuppression

HHV-6/7 Roseola

Herpes infections struation) can cause labial herpes (cold sores) in


later life.
There are eight human herpesviruses. They cause
a number of common and important diseases in
Herpes simplex virus 2 (HSV2, HHV-2)
children.The hallmark of these viruses is their capa-
city to become latent with subsequent recurrence, Transmission of HSV2 from the genital tract of a
causing, for example, shingles (varicella zoster) and mother who is often asymptomatic can result in
cold sores (HSV1). neonatal herpes infection. Neonatal herpes has high
The human herpesviruses and their correspond- mortality and morbidity. It causes a generalized
ing diseases are shown in Fig. 10.4. infection with pneumonia, hepatitis and encephali-
tis, with onset usually in the rst week of life. Treat-
Herpes simplex virus 1 (HSV1, HHV-1) ment is high dose IV aciclovir and supportive care.
Elective Caesarean section is indicated when a
Clinical features
mother with active genital herpes goes into labour.
Most primary infections with HSV1 are asymptom-
atic. The most common clinical manifestation in
childhood is gingivostomatitis. The child (usually a
Varicella zoster (HHV-3, VZV)
toddler) presents with high fever, misery and vesicu- Chickenpox is a common childhood disease caused
lar lesions on the lips, gums, tongue and hard palate, by primary infection with the varicella zoster virus
which might progress to painful, extensive ulcer- (VZV). It is highly infectious with transmission
ation. The illness can last as long as 2 weeks. occurring by droplet infection (the respiratory
Less commonly, infection can involve the: route), direct contact or contact with soiled materi-
als. The average incubation period is 14 days.
Eye: causing dendritic ulcers on the cornea.
Skin: causing eczema herpeticum in children Clinical features
with eczema. A brief coryzal period is followed by the eruption of
Fingers: causing a herpetic whitlow. an itchy, vesicular rash. This starts on the scalp or
Brain: causing herpes simplex encephalitis trunk and spreads centrifugally. Crops appear over
(HSE). 35 days and the mucous membranes might be
involved.
Treatment
Occasionally, IV uid will be required for gingivo- Complications
stomatitis but in this condition oral aciclovir has Complications are unusual in immunocompetent
only a marginal effect. High-dose IV aciclovir is used children but can include secondary bacterial infec-
in HSE. tion of the skin with staphylococci or streptococci
The virus becomes latent in the dorsal root and an encephalitis (often affecting the cerebellum),
ganglion supplying the trigeminal nerve where sub- which appears 36 days after onset of the rash.
sequent reactivation (by UV light, stress or men- Chickenpox can, however, be a very severe disease

68
Viral infections 10

(mortality 20%) in the immunosuppressed child glandular fever) is most common in adolescents.
(children on systemic steroids) and in the newborn The incubation period is 3050 days.
infant if the mother develops chickenpox just before Glandular fever is characterized by fever, malaise,
delivery. pharyngitis (which may be exudative) and cervical
lymphadenopathy. Petechiae might be seen on the
Diagnosis palate and a sparse maculopapular rash might occur.
Diagnosis is clinical but virus isolated from vesicular Splenomegaly is present in 50% of cases and hepa-
uid can be identied by electron microscopy or tomegaly with hepatitis (usually anicteric) in 10%.
culture. The period of infectivity is from 2 days A orid rash might develop if amoxicillin is given.
before eruption of the rash until all the lesions are The infection can persist for up to 3 months.
encrusted.
Diagnosis
Treatment Diagnosis is usually clinical. The blood shows atypi-
Treatment is symptomatic. However, the exposed cal lymphocytes (T cells) and a heterophile anti-
immunosuppressed child should be given varicella body, which is the basis of slide agglutination tests
zoster immune globulin (VZIG) if known to be sero- like monospot and PaulBunnell tests. The latter
negative. VZIG should also be given to newborn appears only in the second week and might not be
babies if the mother develops varicella or herpes produced in young children. Specic EBV serol-
zoster in the 7 days before or after birth and to any ogyIgM to viral capsid antigen (VCA)is avail-
exposed preterm infant. Acyclovir should be given able and more reliable. The differential diagnosis
in severe chickenpox or for clinical infection in is from other causes of infectious mononucleosis
an immunocompromised child or newborn infant. (cytomegalovirus, toxoplasmosis) and other causes
Antibiotics are also given concurrently to cover sec- of pharyngitis.
ondary skin infection.
A live, attenuated vaccine does exist but is not Management
currently licensed in the UK, and no country has Management is symptomatic. Rarely, massive pha-
adopted widespread varicella vaccination. ryngeal swelling can compromise the airway. This is
helped by corticosteroid treatment.
Herpes zoster (shingles)
Cytomegalovirus (HHV-5, CMV)
This is due to reactivation of latent varicella zoster
Cytomegalovirus (CMV) is a common human
and is uncommon in childhood. A vesicular erup-
pathogen. It is transmitted from mother to fetus via
tion occurs in the distribution of a sensory derma-
the placenta in utero, via the oral or genital routes,
tome, mainly in the cervical and sacral regions. In
and by blood transfusion or organ transplantation.
adults they tend to be thoracic and lumbar. Also,
unlike adults, postherpetic neuralgia and malignant
association are rare. Treatment with antivirals is not
routinely indicated.

EpsteinBarr virus (HHV-4, EBV) CMV is a common congenital


infection but rarely causes severe
The EBV has a particular tropism for the epithelial disease.
cells of the oropharynx and nasopharynx, and for B CMV is an important cause of sensorineural
lymphocytes. It is the major cause of infectious hearing loss.
mononucleosis syndrome and is also involved in CMV-negative blood must be used for
the pathogenesis of Burkitts lymphoma and naso- transfusion in immunodecient patients.
pharyngeal carcinoma.

Clinical features
Transmission occurs by droplet transmission or Incidence
directly via saliva (the kissing disease). Most people In the UK, about half of all pregnant women are
are infected asymptomatically in childhood. Symp- susceptible to CMV and about 1% of these will have
tomatic infection (infectious mononucleosis or a primary CMV infection during pregnancy. In

69
Infectious diseases and immunodeciency

almost half of these mothers, the infant will be The swelling usually subsides within 710 days.
infected, making CMV the most common congeni- Patients are infectious from a few days before
tal infection with an incidence of 3 : 1000 live births. the onset to up to 3 days after the enlargement
However, most infants with congenital CMV are subsides.
asymptomatic and develop normally. The central nervous system is commonly involved.
Before vaccination was introduced, mumps was the
Clinical features
commonest cause of aseptic meningitis. Up to 50%
Infection is mild or asymptomatic in adults or
of patients have CSF lymphocytosis and 10% have
children with normal immunity. It can cause a
signs of a meningoencephalitis.
mononucleosis syndrome with pharyngitis and
lymphadenopathy. Severe congenital infection Complications
causes: Complications include pancreatitis (abdominal
pain and raised serum amylase levels) and epidid-
Intrauterine growth retardation.
ymo-orchitis. The latter is uncommon in prepuber-
Hepatosplenomegaly, jaundice and purpura.
tal males and is usually unilateral. Even when it is
Microcephaly, intracranial calcication and
bilateral, infertility is very rare. A postinfectious
chorioretinitis.
encephalomyelitis occurs in 1 out of 5000 cases.
Long-term sequelae include cerebral palsy,
epilepsy, learning disability and sensorineural Diagnosis and treatment
hearing loss. Hearing loss might develop later Diagnosis is usually clinical; treatment is
in life without signs of infection in the symptomatic.
newborn period.
In the immunocompromised host, CMV can cause
Enteroviruses
severe disease including pneumonitis or encephali- The human enteroviruses include:
tis. It is a particularly important pathogen following
Coxsackie virus A and B.
organ transplantation.
Echoviruses.
Diagnosis and treatment Poliovirus.
Diagnosis is made by viral isolation, especially from
Coxsackie viruses can cause aseptic meningitis,
urine or by a strongly positive titre of IgM anti-CMV
myocarditis, pericarditis, Bornholm disease (pleuro-
antibody. To conrm congenital infection, speci-
dynia) and hand, foot and mouth disease.
mens for viral isolation must be taken within 3
weeks of birth.
Treatment with ganciclovir might be effective in
Polio
immunocompromised patients. Poliovirus is an enterovirus with antigenic types 1,
2 and 3. Immunization has rendered poliovirus
Mumps infection uncommon in developed countries but it
remains endemic in parts of the developing world
Mumps is caused by infection with an RNA virus of
such as Africa and the Indian subcontinent. Trans-
the Paramyxovirus family. Routine vaccination at
mission is by the faecaloral route with an incuba-
1215 months, as a component of the MMR vaccine,
tion period of 721 days.
has markedly reduced the incidence. Transmission
is by droplet spread and the incubation period is Clinical features
1421 days. The clinical features vary:
Clinical features Over 90% of cases are asymptomatic.
The clinical manifestations include fever, malaise 5% have a minor illnessfever, headache,
and parotitis. Pain and swelling of the parotid gland malaise.
might initially be unilateral. Parotid gland enlarge- 2% progress to CNS involvementaseptic
ment is more easily seen than felt, between the angle meningitis.
of the mandible and sternomastoidextending In under 2%, paralytic polio occurs due to the
beneath the ear lobe, which is pushed upwards and virus attacking the anterior horn cells of the
outwards. spinal cord.

70
Viral infections 10

Diagnosis of infection is vertical perinatal transmission from


Although imported infections and vaccine- infected mothers. Most transmission occurs during
associated infections are seen in the UK, they are or just after birth from exposure to maternal blood.
rare. The differential diagnosis includes other causes The average incubation period is 20 days.
of aseptic meningitis and acute paralytic disease
Incidence
such as GuillainBarr syndrome. Polio is a noti-
HBV is an important cause of liver disease world-
able disease.
wide. The prevalence of infection in the population
varies globally. In parts of Africa and Asia, up to
Viral hepatitis
80% of children are infected by adolescence. In the
This can be caused by: UK, prevalence is under 2% in the indigenous
Hepatitis virus A, B, C, D, E or G. population.
Arbovirus-yellow fever. Clinical features
Cytomegalovirus, EpsteinBarr virus. In most children, infection is asymptomatic,
although features of acute hepatitis might occur;
Hepatitis A virus (HAV) fulminant hepatic failure occurs in 1% of cases. The
This is an RNA virus spread by faecaloral transmis- most important consequence of infection is the risk
sion. The incubation period is 26 weeks. of becoming a carrier with subsequent development
of cirrhosis or hepatocellular carcinoma. The risk of
Clinical features developing carrier status rises with infection at a
In infants and young children, many infections are young age (reaching 90% in those infected perina-
asymptomatic or present as a non-specic febrile tally). Between 30 and 50% of carrier children will
illness without jaundice. Older symptomatic chil- develop chronic HBV liver disease.
dren develop fever, malaise, anorexia, abdominal
pain (from a tender enlarged liver) and jaundice. Diagnosis
Dark urine (due to urobilinogen) may precede the Diagnosis is dependent on serological testing for
jaundice. antibodies and antigens related to HBV. Acute HBV
infection is associated with the presence of HBsAg
Diagnosis and IgM antibodies to HBc antigen. Carrier status is
Diagnosis is often made on the combination of dened as HBsAg persisting for more than 6 months.
clinical features and history of exposure, but might The presence of HBeAg correlates with high infectiv-
be conrmed by measurement of IgM anti-HAV ity, whereas the presence of antibodies to HBeAg
antibody. Serum transaminases and bilirubin levels indicates low infectivity (Fig. 10.5).
are elevated.
Management
Treatment There is no specic treatment for acute hepatitis
There is no specic treatment. The majority of chil- B infection at any age. Interferon treatment is
dren have a mild, self-limiting illness and recover
within 24 weeks. The most serious but rare com-
plication is fulminant hepatic failure.
Serological markers of HBV infection
Active immunization is available and is mostly
used for frequent travellers. Close contacts should
Anti-HBc Anti-HBc
be given prophylaxis with intramuscular human HBsAg Anti-HBs IgM IgG
normal immunoglobulin (HNIG).
Acute HBV infection + + +

Hepatitis B virus (HBV) HBV carrier + + or +

This is a DNA virus of the Hepadnavirus genus. It is Immune:


a double-shelled particle with an inner core (HBc) Previous infection + or +

and an outer lipoprotein coat comprising the hepa- Immune:


titis B surface antigen (HBsAg). Immunization +
Transmission is parenteral via blood and other
body uids. In infants, the most important source Fig. 10.5 Serological markers of hepatitis B (HBV) infection.

71
Infectious diseases and immunodeciency

under trial in chronic hepatitis caused by HBV


Infections caused by Staphylococcus aureus
infection.
Prevention Direct infection Toxin-mediated

Effective immunization is available and is Impetigo Toxic shock syndrome


recommended: Folliculitis/boils Scalded skin syndrome
Wound infections Food poisoning
After perinatal exposure. Abscess
Pneumonia
For individuals at risk, e.g. doctors, dentists or Osteomyelitis
intravenous drug abusers. Septic arthritis
Postexposure, e.g. needlestick injury.
Fig. 10.6 Infections caused by Staphylococcus aureus.
Perinatal exposure
All pregnant women should have antenatal screen-
Clinical features
ing for the HBsAg. All babies born to women known
Erythematous macules develop into characteristic
to be HBsAg positive should commence a course of
honey-coloured crusted lesions. Some cases are due
hepatitis B vaccine within 24 hours of birth. Unless
to streptococcal infection.
the mother is known to be anti-HBe positive, the
baby should also receive hepatitis B specic immu- Treatment
noglobulin (HBIG). Topical antibiotics can be used for mild cases (e.g.
mupirocin) but more severe infections require sys-
temic antibiotics (e.g. ucloxacillin). Nasal carriage
BACTERIAL INFECTIONS is an important source of reinfection and can be
eradicated by nasal cream containing chlorhexidine
Staphylococcal infections and neomycin.
The coagulase-positive bacterium Staphylococcus
aureus is the main pathogen but coagulase-negative
Boils and abscesses
bacteria, e.g. Staphylococcus epidermidis, are a major A boil (or furuncle) is an infection of a hair follicle
problem in Intensive Care Units. Methicillin- or sweat gland and is usually caused by Staphylococ-
resistant Staphylococcus aureus (MRSA) causes prob- cus aureus.
lems of nosocomial (i.e. hospital acquired)
Clinical features
infection.
A painful, red, raised, hot lesion develops and
Staphylococcus epidermidis is part of the normal
usually discharges a purulent exudate heralding
skin ora and Staphylococcus aureus is found in the
spontaneous resolution.
nares and skin in up to 50% of children. Infections
occur when defences are compromised. Many infec- Treatment
tions are therefore caused by the bodys own bacte- Treatment is with systemic antibiotics. Deeper infec-
ria, but transmission between individuals occurs tion can lead to abscess formation in which case
with close contact. incision and drainage are usually required.
Staphylococcus aureus most commonly causes
supercial infection such as boils and impetigo, and Osteomyelitis/septic arthritis
occasionally deeper infections, e.g. of the bones, See Chapter 18.
joints, or lungs (Fig. 10.6). Toxin-producing Staphy-
lococcus aureus causes scalded skin syndrome and Staphylococcal scalded skin
toxic shock syndrome.
syndrome (SSSS)
Impetigo This is a potentially life-threatening, toxin-mediated
manifestation of localized skin infection.
This highly contagious skin infection commonly
occurs on the face in infants and young children Clinical features
especially if there is pre-existing skin disease, e.g. SSSS results from the effect of epidermolytic toxins
eczema. produced by certain phage types. They cause blister-

72
Bacterial infections 10

ing by disrupting the epidermal granular cell layer. Clinical features


The lesions look like scalds. The clinical features include:
Treatment Tonsillitis.
Management requires attention to uid balance and Strawberry tongue.
treatment with intravenous ucloxacillin. Palatal petechiae.
Rash: a widespread, erythematous rash starting
Streptococcal infections on the trunk that becomes punctate and
desquamates on resolution after 710 days
Streptococci are Gram-positive cocci. Important
(ushing of the face is often associated with
pathogenic types include:
circumoral pallor).
Group A -haemolytic streptococci (Streptococcus Fever.
pyogenes).
Group B streptococci. Diagnosis
Streptococcus pneumoniae (pneumococcus). Diagnosis is clinical, but can be conrmed by isola-
tion of the streptococcus from a throat swab, and by
These bacteria are responsible for a number of elevated antistreptolysin 0 titres.
common and important paediatric diseases that can
be caused by: Treatment
Treatment is with penicillin (or erythromycin if the
Direct infection. patient has penicillin allergy).
Toxins.
Postinfectious immune-mediated mechanisms
Erysipelas
(acute glomerulonephritis, rheumatic fever).
This intradermal infection is caused by toxin-
Infections caused by streptococci are shown in producing Streptococcus pyogenes.
Fig. 10.7. Most of these are described elsewhere:
tonsillitis (see Chapter 14), pneumonia (Chapter Clinical features
14), meningitis (Chapter 17), glomerulonephritis The face or leg is the usual area affected. The skin is
(Chapter 16) and rheumatic fever (Chapter 13). dusky and vesicles or bullae might develop.

Scarlet fever Diagnosis and treatment


Skin swabs and blood cultures might be negative;
This occurs in children who have streptococcal treatment is with parenteral antibiotics.
pharyngitis. The organism produces a toxin, which
causes a characteristic rash.
Preseptal cellulitis
This presents as unilateral periorbital oedema in a
Infections caused by Streptococci young child, usually after an upper respiratory tract
infecton; fever might be present. The common
Organism Disease caused
pathogens are Streptococcus species and Haemophilus
Group A Streptococcus Pharyngitis/tonsillitis inuenzae (more common in children under 3
Cellulitis
Osteomyelitis years old).
Septicaemia It is important to distinguish this from the less
Toxin-mediated:
common, but more serious, orbital cellulitis, in
Scarlet fever
Erysipelas which there is proptosis, limitation of ocular move-
Toxic shock-like syndrome ment and impaired vision.
Streptococcus pneumoniae Otitis media Treatment is with IV broad-spectrum antibiotics.
Pneumonia
Meningitis
Septicaemia
Tuberculosis
Group B Streptococcus Neonatal infection, e.g. pneumonia, Incidence and aetiology
meningitis, or septicaemia
Tuberculosis (TB) remains a major global health
Fig. 10.7 Infections caused by streptococci. problem, causing 35 million deaths annually. The

73
Infectious diseases and immunodeciency

increasing incidence in patients with HIV, combined Tuberculosis is caused by infection with the acid-
with the emergence of multidrug-resistant strains of fast, slow-growing bacillus Mycobacterium tuberculo-
the causative organism, has generated new concern sis. Children are usually infected by inhalation of
over this age-old public health problem. infected droplet nuclei from an adult who is a
Tuberculosis is more common among the under- regular or household contact. Children with the
privileged, especially in urban areas and the immuno- disease (even with active pulmonary disease) are
compromised. Its incidence has been rising in the almost always non-infectious. Therefore once a
UK. It occurs in all racial groups but high rates are child is identied as having TB, notication to public
seen in children whose families have come from health is essential to identify the index case and
endemic areas such as: contact trace.

The Indian subcontinent (India, Pakistan and Clinical features


Bangladesh). The clinical features of TB (Fig. 10.8) reect the wide
Sub-Saharan Africa. variation in outcomes that follow inhalation of the

Fig. 10.8 Course of infection in


tuberculosis.
Primary pulmonary
infection from exposure to
smear positive TB contact

Inadequate immune response:

Progressive pulmonary
Successful immune response: disease
May have symptoms
Well child Tuberculin positive unless
Tuberculin positive immunosuppressed
Asymptomatic Abnormal CXR
Normal CXR

Give full treatment course


6 months of 3-4 drugs:
Rifampicin
Isoniazid
To prevent reactivation in later Pyrazinamide
life due to immunosuppression, +/ Ethambutol
age, or HIV infection:

Give chemoprophylaxis:
3 months isoniazid and rifampicin

But if < 4 years then full treatment If not treated will


needed to prevent disseminated progress to:
disease Lymph and
haematogenous
spread

Lifelong immunity

Miliary and extrapulmonary TB


Long and more intense
treatment required

74
Bacterial infections 10

tubercle bacillus or primary infection. Children adult with smear-positive tuberculosis, symptoms
under 4 years are at particularly high risk of dis- (weight loss, night sweats, cough), clinical signs,
seminated disease, e.g. TB meningitis. tuberculin testing, chest X-ray and examination of
appropriate specimens by microscopy and culture
(gastric washings) can suggest the diagnosis.

TB contacts <4 years of age are at high


risk of disseminated disease and should
be evaluated promptly.
Criteria for TB diagnosis include:
Adult TB contact.
Signs and symptoms.
Tuberculous infection: asymptomatic infection CXR changes.
This is most common. A local inammatory Positive Mantoux test.
reaction limits disease progression and the Positive cultures (gastric washings or other).
disease becomes latent. Reactivation can occur
subsequently.
Tuberculous disease: symptomatic infection Tuberculin testing
Multiplication within macrophages occurs at the This is done using the Mantoux test in which an
peripheral alveolar site (the primary or Ghon focus) intradermal injection of puried protein derivative
and the bacilli spread to the regional lymph nodes (PPD) of tuberculin, e.g. 10 units (0.1 mL of 1 : 1000)
causing hilar lymphadenopathy. The peripheral lung is made on the volar aspect of the forearm. The site
lesion and nodes comprise the primary or Ghon is read after 4872 hours by measuring the trans-
complex. Systemic symptoms can then develop, verse diameter of induration in millimetres. A 5-mm
including fever, anorexia, weight loss and cough. diameter reaction is considered positive, especially
The pulmonary pathology can evolve in several if risk factors are present. When previous BCG
different ways. Bronchial obstruction by enlarged immunization has been carried out, a reaction of
lymph nodes might cause segmental collapse and greater than 10 mm is indicative of infection.
consolidation. Rarer outcomes include develop-
ment of a pleural effusion or progressive primary Culture and histology
pulmonary TB with cavity formation (in adolescents Isolation of Mycobacterium tuberculosis by culture is
and adults). Spread into the lymphoid system the gold standard but positive cultures are obtained
can result in cervical, supraclavicular or axillary in a minority of children. Early-morning gastric
lymphadenopathy. washings on 3 successive days are the best speci-
mens. It takes 68 weeks for the bacillus to grow.
Haematogenous dissemination Microscopy is often negative but histological exami-
In addition to the above intrathoracic events, hae- nation of a lymph node biopsy may reveal caseating
matogenous spread probably occurs in most chil- granulomata and acid-fast bacilli.
dren, although dormant lesions rather than disease PCR and T-SPOT.TB has been increasingly used
occur in these distant sites. Tubercle bacilli might in the diagnosis of tuberculosis.
spread to the bones (especially the vertebral
column), joints, kidneys and meninges. Miliary TB Radiology
is the most severe result of haematogenous spread. TB is suggested by hilar or mediastinal lymphade-
It occurs particularly in small infants or immuno- nopathy, especially if it is unilateral, or in combina-
suppressed individualslesions are found through- tion with a wedge of collapse or consolidation.
out the lungs, liver, spleen and bone marrow. Calcication also suggests TB.
Treatment and prevention
Diagnosis A 6-month regimen consisting of four drugs
This can be difcult and requires a high index of isoniazid, rifampicin, pyrazinamide and ethambu-
clinical suspicion. A history of close contact to an tol for 2 months (or longer, until sensitivities are

75
Infectious diseases and immunodeciency

available) followed by isoniazid and rifampicin for systemic infections. Salmonellosis occurs after
4 months is used in most instances, except in tuber- infection with Salmonella enteritidis or Salmonella
culous meningitis. In previously untreated white typhimurium, which usually cause gastroenteritis
patients who are HIV negative and who have not (food poisoning) and is more common in the UK
been in contact with drug-resistant tuberculosis, eth- than typhoid feveranimals constitute the main
ambutol may be omitted in the initial phase. Chil- reservoir for these strains and nearly half the human
dren with tuberculous infection (asymptomatic with infections are transmitted by poultry products. Sal-
positive Mantoux) but no disease need chemopro- monellae are Gram-negative bacilli.
phylaxis to prevent future reactivation. In this Transmission of typhoid fever, on the other hand,
situation, either a combination of isoniazid and is by ingestion of food or water contaminated by
rifampicin for 3 months or isoniazid as a single faeces or urine from an infected person. The incuba-
agent for 6 months is used. The most important tion period is 13 weeks.
preventive measures are prompt treatment of infec-
tious cases and thorough contact tracing. Clinical features
The BCG (bacilli CalmetteGuerin) vaccine has
The clinical presentation is similar in each case but
been used in the UK since the 1950s to protect
paratyphoid fever is milder. Typhoid (enteric) fever
against TB, especially TB meningitis. Routine BCG
is characterized by slow onset of fever, malaise,
immunization of all schoolchildren has been
headache and tachypnoea. Signs include spleno-
replaced by a more targeted approach since 2005.
megaly, and a characteristic rash of rose spots on
Currently in the UK, BCG is given to:
the trunk. Unlike adults, children do not usually
Immigrants from countries with high incidence develop a relative bradycardia. Paratyphoid is a
of TB. milder illness but diarrhoea is more common.
Mantoux-negative contacts of open TB cases.
People who intend to live for 1 or more Diagnosis
month(s) in a TB endemic country.
Diagnosis is made by culture of organisms from the
Babies living in areas of UK where the
blood (early in the disease) or from stool and urine
incidence of TB is more than 40 per 100 000
(after the rst week).
per year.
Children whose parents or grandparents have
lived in a country with a high prevalence of TB. Management
Ceftriaxone for 14 days is effective, as is ciprooxa-
cin. Family and close contacts should be screened
with stool cultures. Three consecutive negative stools
signify clearance of infection. Long-term symptom-
It is important to stress the less carriage can occur with a reservoir of infection
importance of treatment in the gall bladder and excretion in the faeces.
these children often become
symptom free after the rst
few weeks and compliance can be poor thereafter,
PARASITIC INFECTIONS
which can lead to clinical infection later on. Parents
should be made aware of the risks of inadequate
treatment, including emergence of drug resistance.
Malaria
Incidence and aetiology
Malaria is a major global health problem with an
annual mortality rate between 1.5 and 2.7 million.
Typhoid and paratyphoid fever Although the majority of these are in the sub-
Typhoid fever is caused by Salmonella typhi and para- Saharan Africa, imported malaria is increasingly
typhoid by Salmonella paratyphi. Both occur world- reported from the UK.
wide, but mostly in the developing world and Malaria is caused by infection with any of the
the main reservoir is humans; they are invasive, four species of the protozoan parasite Plasmodium.

76
Parasitic infections 10

Most of the 300 cases of childhood malaria im- of a larger volume of blood per microscopic eld.
ported to the UK each year are due to Plasmodium At least three lms should be taken as one negative
falciparum, which accounts for 85% of malaria seen lm does not exclude malaria. Both the species and
in travellers to Africa. Half of these did not take the percentage of parasitaemia should be deter-
chemoprophylaxis. mined; parasitaemia >2% indicates moderately
severe infection.

Management
Fever in a child who has been to a Children with conrmed or suspected falciparum
malarious area is malaria until proven malaria require hospitalization and treatment with
otherwise: quinine or meoquine (for those aged over 2 years).
Most cases are falciparum. This is given orally in uncomplicated disease or
Plasmodium falciparum requires treatment with intravenously if the parasite count is high or com-
quinine. plications are present. In vivax infection, 23 weeks
of primaquine is needed to clear dormant hypnozo-
ite hepatic infection; falciparum does not have a
dormant life cycle.
Transmission is vector-borne via the female
Travellers to endemic areas should take chloro-
anopheles mosquito. The onset is usually 710 days
quine from 1 week before to 4 weeks after travel. It
after inoculation but might be delayed by months
is important to warn them that this does not guar-
or even years. The feeding female mosquito injects
antee protection.
sporozoites, which pass to the liver via the blood-
stream. After asexual multiplication in hepatocytes,
these emerge as merozoites, which invade, multiply Worms (nematodes)
in and destroy the hosts red blood cells. Some of Four important nematodes infect children:
the merozoites form gametocytes, which are sucked
up by a feeding mosquito; the sexual phase of the Enterobius vermicularis (pinworm or
life cycle then takes place in the mosquito with the threadworm).
formation of a new generation of sporozoites. Ascaris lumbricoides (roundworm).
Ancylostoma duodenale (hookworm).
Clinical features Toxocara canis.
Malaria presents with fever and any child with a
fever who has visited a malarious area in the preced- Threadworm
ing year should be considered to have malaria until This is very common in preschool children. Trans-
proven otherwise. Non-specic symptoms include mission is via the faecaloral route. Adult female
headache, rigors, abdominal and muscle pains, worms lay their eggs in the perianal area at night.
cough, diarrhoea and vomiting. Common misdiag- Scratching results in eggs being carried under the
noses include viral inuenza, gastroenteritis or ngernails to the mouth and autoinfection.
hepatitis.
Apart from the fever, which is rarely periodic, Clinical features
there are no consistent clinical signs. Splenomegaly, Children present with perianal pruritus and vulvo-
anaemia and jaundice can all occur and a number vaginitis but tissue invasion does not occur and sys-
of signs characterize the severe complication of temic complications are uncommon. The worms
algid malaria (shock), cerebral malaria (coma, ts) appear like white cotton threads and might be
or blackwater fever (haemoglobinuria and renal visible at the anus.
failure). Diagnosis
Diagnosis can be made by applying transparent
Diagnosis adhesive tape to the perianal region in the morning
Diagnosis is made by the examination of thick and and examining the tape for eggs with a magnifying
thin blood lms. The former allows rapid scanning glass the Sellotape test.

77
Infectious diseases and immunodeciency

Management Incidence
Treatment is with two doses of piperazine 2 weeks
First described in Japan in 1967, KD affects children
apart or a single dose of mebendazole (for children
mainly between the age of 6 months and 4 years
over 2 years). Reinfection is common and can be
(peak at 1 year). It is much more common in chil-
reduced by keeping ngernails short and wearing
dren of Asian origin. In the UK the incidence is 34
close-tting pants. Family members should be
cases per 100 000.
treated even if asymptomatic.

Toxocariasis Clinical features


Human toxocariasis is mainly caused by infection The aetiology is unknown but the disease process is
with Toxocara canis, a common gut parasite of dogs. a vasculitis affecting the small and medium vessels
Toxocara eggs are ingested when a child eats soil, including, most importantly, the coronary arteries
play-pit sand or unwashed vegetables contaminated leading to aneurysm formation. Subsequent scar
with infective dog or cat faeces. formation causes vessel narrowing, myocardial
ischaemia or even infarction, andoccasionally
Clinical features sudden death. A bacterial toxin acting as a
There are two distinct forms of disease: superantigen can trigger the vasculitis.
Visceral larva migrans (VLM): characterized
by fever, hepatomegaly, wheezing and Diagnosis
eosinophilia. The diagnosis is based on clinical criteria, which
Occular larva migrans: a granulomatous emerge sequentially; ve out of six are required to
reaction in the retina causing a squint or make a diagnosis (Fig. 10.9). Atypical disease is
reduced visual acuity. diagnosed if coronary aneurysms are present without
Management all the criteria.
Treatment is with thiabendazole for VLM and ste- The differential diagnosis includes measles,
roids for the eye disease. Toxocara infection could scarlet fever, rubella, roseola and fth disease. The
be prevented by the regular de-worming of cats and following investigations are undertaken if KD is
dogs and by not allowing animals to defecate in suspected:
public places, including sandpits. FBC, ESR.
U&Es, liver function tests.
Throat swab and ASOT.
KAWASAKI DISEASE Blood cultures and viral titres.
Echocardiography.
Kawasaki disease (KD), an uncommon systemic vas- ECG.
culitis, is also called mucocutaneous lymph node
syndrome. Early diagnosis and treatment might Thrombocytosis, although common, is a late fea-
prevent lethal cardiac complications. It has replaced ture and therefore unhelpful in establishing the
rheumatic fever as the most common cause of diagnosis.
acquired heart disease in children.

Diagnostic criteria for Kawasaki disease

Fever for 5 days or more


Early recognition of Kawasaki disease is Bilateral (non-purulent) conjunctival injection
vital to reduce the risk of cardiac Rashpolymorphous
Lipsred, dry, or cracked and strawberry tongue
complications: Extremities:
The fever is often unresponsive to antipyretics. Reddening of palms and soles
Characteristically, the child is extremely miserable. Indurative oedema of hands and feet

Think of Kawasaki disease in prolonged fever and


Peeling of skin on hands and feet (convalescent phase)
Cervical lymphadenopathyoften unilateral, non-purulent
rash.
Fig. 10.9 Diagnostic criteria for Kawasaki disease.

78
Immunodeciency 10

Echocardiography is undertaken to detect coro- Secondary: in which a defect in the immune


nary artery aneurysm formation. These occur in 30% system has been acquired, as occurs in
of untreated cases and typically develop within the malnutrition, infections (e.g. HIV, measles),
rst 46 weeks of the illness. This investigation is immunosuppressive therapy (e.g. steroids,
repeated at intervals during the rst year. cytotoxic drugs), hyposplenism (e.g. sickle-cell
disease, splenectomy).
Treatment In acquired immunodeciency, the cause is usually
The most effective treatment involves a single dose self-evident. Primary immunodeciency should be
of IV immunoglobulin (2 g/kg). This reduces both suspected in the following clinical circumstances:
the incidence and severity of coronary artery aneu-
An excess of infections: this is manifest by
rysm formation if given within the rst 10 days.
severe, unusual or persistent infections, or
Aspirin is given concurrently to reduce the risk
infections with unusual organisms (Fig. 10.10).
of thrombosis at a high dose initially (100 mg/
Unexplained failure to thrive.
kg/day in divided doses) until the pyrexia has
Chronic diarrhoea.
resolved. A low dose (35 mg/kg/day) is continued
for 68 weeks. Current evidence on steroid treat-
ment is conicting and their use is not routinely
recommended.

Suspect immunodeciency in the


following circumstances:
Recurrent bacterial lower respiratory
Immunoglobulin is a blood tract infections.
product and parents should be Neonatal lymphocyte count less than 2.0
informed of the potential 109/L.
benets (which is prevention Failure to thrive.
of aneurysm formation) and adverse effects (which Unusual infection:
can include anaphylaxis). Recurrent or chronic skin infection.
Recurrent or chronic candidal infections.

IMMUNODEFICIENCY
Primary immunodeciencies
This can be classied into:
These can be inherited as X-linked (affecting boys)
Primary: in which there is an inherited, intrinsic or autosomal recessive disorders; 40% are diagnosed
defect in the immune system. in rst year of life. Examples are given below.

Fig. 10.10 Immune defects and


Immune defects and corresponding susceptibility corresponding susceptibility.

Defect Susceptibility

Antibody Bacteria: Pneumococcus, Staphylococcus, Streptococcus,


Haemophilus influenzae
Viruses: Enteroviruses

Cell-mediated Viruses: Herpes viruses, measles


Fungi: Candida, Aspergillus, Pneumocystis carinii
Bacteria: Mycobacteria, Listeria

Neutrophil function Bacteria: Gram-positive, Gram-negative


Fungi: Candida, Aspergillus

79
Infectious diseases and immunodeciency

X-linked agammaglobulinaemia Management of primary immunodeficiency


(Brutons disease)
The following treatment options are available:
There is a failure of B cell development and immu-
noglobulin production. It presents with severe bac-
Antibiotic prophylaxis, e.g. co-trimoxazole, to prevent
Pneumocystis carinii infection
terial infections in the rst 2 years of life. Vigorous antibiotic therapy for infections
Immunoglobulin replacement therapyregular IV
immunoglobulin can be given for severe defects in
Severe combined antibody production
immunodeciency (SCID) Bone marrow transplantation
Gene therapythis has been successfully performed for
SCID caused by adenosine deaminase deficiency
A heterogeneous group of disorders with profoundly
defective cellular and humoral immunity (hence the
name combined). It presents in the rst 6 months Fig. 10.11 Management of primary immunodeciency.
of life with failure to thrive, diarrhoea, candidal
infections and recurrent, severe and unusual infec-
tions. A blood count often shows lymphopenia. Cytotoxic agents.
Bone marrow transplantation is curative. Steroids.
Cytotoxic chemotherapy for malignant disease (e.g.
Common variable acute leukaemia) causes immunosuppression due to
immunodeciency (CVID) marrow suppression and neutropenia. Febrile chil-
This term encompasses a heterogeneous group of dren with neutrophil counts less than 0.5 109/L
patients who have low levels of serum IgG and IgA. are at risk for serious and potentially fatal bacterial
Usually present in late childhood with recurrent and fungal infection.
bacterial infection of sinuses or lungs. Children on high-dose corticosteroids (e.g. for
nephrotic syndrome) are particularly at risk for
Selective IgA deciency disseminated chickenpox infection. Children with
organ transplants are prone to infection with
This is common (1 : 700 population). Most people cytomegalovirus.
with complete absence of IgA are asymptomatic. It
is associated with autoimmune diseases in 40%, and Infection
also with IgG subclass deciency. Children decient
in IgG2, the subclass providing immunity against Worldwide, the two most important infections,
polysaccharide antigens, might be susceptible to which cause immunodeciency, are:
infection with encapsulated organisms (e.g. Strepto- Measles.
coccus pneumoniae, Haemophilus inuenzae type B). HIV infection.

Chronic granulomatous disease Paediatric HIV infection


An inherited disorder, usually X-linked, in which Human immunodeciency virus type 1 (HIV-1), the
phagocytic cells fail to produce the superoxide causative agent of acquired immunodeciency syn-
anion. It presents with repeated bacterial and fungal drome (AIDS), is transmitted to infants and chil-
infections involving the skin, lymph nodes, lungs, dren by vertical transmission from HIV-infected
liver and bones. Granulomas and abscesses form in women or by HIV-contaminated blood or blood
these sites. Diagnosis is conrmed by failure to products.
reduce nitroblue tetrazolium (NBT test).
The management of primary immunodeciency Incidence
is outlined in Fig. 10.11. The WHO estimates that 20 million adults and 1.5
million children have been infected with HIV since
Secondary immunodeciency the pandemic began; 1500 children in sub-Saharan
Africa are infected daily. The incidence of child-
Immunosuppressive therapy hood HIV is increasing in the UK but mortality
Therapeutic drugs, which cause immunosuppres- has decreased signicantly with new antiviral
sion, include: therapies.

80
Immunodeciency 10

Transmission infected children than in adults. Mortality and hos-


The main route of transmission to children is verti- pital admissions have decreased since the introduc-
cally from mother to child: intrauterine, intrapar- tion of combination antiviral therapy.
tum or via breastfeeding. Transmission rates vary Changes in immune function are shown in Figs
with geographical area: lower in Europe and higher 10.12 and 10.14, and the clinical manifestations in
in Africa. With current management vertical trans- Figs 10.13 and 10.15.
mission is now <1%.
Diagnosis
All newborns born to HIV-infected women will have CD4 percentage
circulating maternal HIV antibodies but only a pro-
portion of these are infected with the virus. Passively >25% No evidence of suppression
acquired antibody disappears at 1518 months of 1525% Moderate immunosuppression
age so this is not a reliable test for infection under
18 months. <15% Severe immunosuppression

Two approaches exist for diagnosis in children Viral load Unlike adults does not correlate
younger than 18 months: well with disease course

HIV viral culture: the gold standard but not Fig. 10.14 Immunological categories.
widely available.
Detection of viral genome by polymerase chain
reaction. Noninfectious complication of AIDS

Clinical manifestations: progression to AIDS


Neurological Encephalopathy
The incubation period from infection to disease Motor defects
varies but appears to be shorter in perinatally Seizures

Gastrointestinal Anorexia
Nausea
Immunological test results in AIDS Diarrhoea
Weight loss
Reduced CD4 count Lymphoid hyperplasia Lymphoid interstitial pneumonitis
Antigen detection, e.g. p24 syndrome Polyglandular enlargement
Raised IgG antibody
HIV DNA/RNA PCR Cutaneous Kaposi's sarcoma

Fig. 10.12 Immunological test results in AIDS. Fig. 10.15 Noninfectious complications of AIDS.

Fig. 10.13 Clinical manifestations of


Clinical manifestations of HIV infection in children HIV infection in children.

Category Severity Manifestation

Category N Asymptomatic

Category A Mild Lymphadenopathy


Hepatosplenomegaly
Parotitis

Category B Moderate Severe bacterial infection


Chronic diarrhoea
Candidiasis
Lymphocytic interstitial pneumonitis (LIP)

Category C Severe (AIDS) Wasting (severe failure to thrive)


Opportunistic infections, e.g.
Pneumocystic carinii pneumonia (PCP)
Encephalopathy
Severe bacterial infections
Malignancy (rare)

81
Infectious diseases and immunodeciency

Management Two (mother and child) members of the family


Cotrimoxazole prophylaxis against Pneumocystis might be sick or dying at the same time.
carinii pneumonia is given for children with HIV Social or cultural isolation.
infection. The primary immunization course should Stigma of diagnosis.
be given. BCG is not recommended but MMR should Major problem with increasing costs of antiviral
be deferred only if severely immunosuppressed. drugs in developing countries.
Antiretroviral treatment is recommended when
Prevention
the child becomes symptomatic or there is a low or
Zidovudine, given to the mother in pregnancy and
rapid fall in the CD4 count (<15%). This treatment
during delivery and to the neonate for the rst 6
comprises a combination of reverse transcriptase
weeks of life reduces the risk of vertical transmis-
inhibitors with protease inhibitors.
sion of HIV-1. Caesarean section is recommended
Coordinated psychological and social support for
but if the maternal viral load is low then vaginal
the whole family is a vital aspect of managing an
delivery appears to be safe. Antenatal HIV testing
HIV infected child. Issues include:
therefore confers potential benets. Education cam-
Telling children the diagnosis. paigns can reduce but not eliminate the spread of
Retaining condentiality. HIV.

82
Allergy and anaphylaxis 11
Objectives

At the end of this chapter, you should be able to


Understand the natural history of allergies.
Take an appropriate history and perform relevant examination in a child with a
suspected allergic reaction.
Understand the different tests used to diagnose allergies.
Understand the acute and long-term management of children with anaphylaxis.

Allergy can be dened as a hypersensitive reaction approximately 60% will have a reaction to certain
initiated by immune mechanisms. This is mediated foods.
primarily by antibodies from the IgE isotype but in
some reactions non-IgE mechanisms are responsi-
ble. The typical IgE-mediated response is biphasic.
This is characterized by an early response (within 20
minutes) and a late response at 36 hours. Typical Many allergies improve as the child
allergic reactions include: grows older.
Asthma.
Food allergy.
Allergic rhinoconjunctivitis. The natural history of allergy changes with
Atopic eczema. increasing age. In early childhood, food reactions
Anaphylaxis. predominate, with manifestations in the skin, respi-
This chapter will cover mainly food allergy and ana- ratory and gastrointestinal tract. With increasing
phylaxis, as the others are discussed elsewhere. age, inhaled allergens become more important; ini-
tially this tends to involve indoor allergens (house-
dust mite and pets) and then outdoor allergens
EPIDEMIOLOGY (moulds and pollens) later.

The increasing prevalence of allergy in children over


the past 2030 years has led to an increased need
for specialized services dealing in childhood allergy. Parents often would want to
Although part of the increase in cases of allergy know the long-term outcome
stems from greater awareness and reporting, popula- of food allergy85% of
tion-based studies have shown a signicant rise in children outgrow cows milk
allergic diseases. Approximately 68% of all chil- allergy at the age of 3 years but peanut allergy
dren experience food allergy and 6% of all asthmat- is lifelong.
ics have food-induced wheeze. In atopic eczema,

83
Allergy and anaphylaxis

CROSS-REACTION Examining a child for allergy

TO ALLERGENS Respiratory Asthma/wheeze


Stridor and angio-oedema
It is important to note that children sensitized to Hoarseness
Rhinoconjunctivitis
one allergen can develop reactions to another even
though previous exposure has not occurred. This is Gastrointestinal Nausea, vomitting and diarrhoea
Abdominal distension
because certain allergens share the same binding site Failure to thrive
(epitope) to IgE and one mimics the other. Exam-
Cardiovascular Hypotension and shock
ples are: Dizziness

Grass and peanut. Skin Pruritus


Peanuts, soy beans and lentils. Urticaria
Atopic dermatitis
Latex and banana. Angio-oedema

It is rare to have IgE-mediated reactions to more


Fig. 11.1 Examining a child for allergy.
than three foods and allergy testing results that
show cross-reaction should be conrmed by food
challenge. symptoms. Neither of these tests diagnoses non-IgE-
mediated reactions and only a food challenge is
diagnostic.
CLINICAL ASPECTS OF ALLERGY

Diagnosis
The aim of the history is to ascertain what allergens Skin-prick testing is useful in all ages
the child reacts to and to discover if non-allergy but not over areas of eczema.
mechanisms might be the cause of symptoms. An Food challenge is indicated in cases of
example is that 90% of cases of penicillin reaction doubt.
obtained from the history are not caused by allergic
mechanisms. The history should include:
Age of onset.
Diurnal and seasonal variations. Skin-prick testing
Family history. This is the most common test because it is cheap,
Dietary history. quick and has a good safety prole. For most aller-
Time between exposure and reaction. gens (except soy) a negative test means that it is
Reproducibility of reaction. unlikely that the patient will react to the allergen
Housing conditions and school. tested. Unfortunately, a positive test means only a
Examination of the child must include the skin; 5060% chance that the child will react and there-
ears, nose and throat (ENT); respiratory and gastro- fore the test result must be interpreted with a good
intestinal tracts; and some cardiovascular tests (Fig. clinical history. If there is a strong history of food
11.1). The nutritional status must be noted. reaction and a positive skin-prick test then a food
Symptoms that are severe, persistent or recurrent challenge is not needed to conrm the allergen is
are an indication for allergy testing. This is com- responsible for symptoms.
monly in the form of skin-prick testing or specic
serum IgE levels. Food challenge is the gold stan- Serum-specic IgE
dard and is used when doubts remain about the role This is commonly referred to as RAST testing because
of particular allergens. There is no lower age limit it describes the type of assay that is performed on
on testing and it must be noted that the severity of the serum. It measures levels of IgE that are food
reaction from skin-prick tests or levels of specic IgE specic. This type of test is useful if skin-prick testing
have a poor correlation with severity of clinical cannot be used (e.g. active eczema, patients on ste-

84
Anaphylaxis 11

roids or antihistamines and the drug cannot be airway obstruction) and/or cardiovascular symp-
stopped). Like skin-prick tests, a negative result is toms (shock, hypotension or dizziness).
good for ruling out allergens but a positive result is It is caused by prior exposure to antigen-
useful only in the context of a positive history. sensitizing mast cells and basophils, leading to sys-
temic release of inammatory mediators resulting in
Food challenge capillary leak, mucosal oedema and smooth muscle
This is the gold standard and is used when uncer- contraction.
tainties about the role of particular allergens or when Anaphylaxis can be mediated by IgE, when the
non-IgE mechanisms are implicated. This is the only term allergic anaphylaxis should be used; when IgE
investigation that can accurately predict what clini- is not implicated or is unclear, the term non-allergic
cal reactions will occur with food exposure. anaphylaxis should be used. The term anaphylac-
toid is no longer used.
Anaphylaxis has an increasing incidence and,
in children, foods are the most common cause,
followed by drugs and hymenoptera (bee/wasp)
venom. In adults the common causes are drugs,
Although very helpful in making a
insect venom, foods and latex.
diagnosis, allergen challenging can lead
to severe reactions including anaphylaxis.
Therefore it should be performed in the hospital Foods
setting after obtaining informed consent from Foods are the most common cause of anaphylaxis
parents. in children. Peanuts are the most common food to
cause a reaction.

Insect venom
MANAGEMENT OF ALLERGY Anaphylaxis to venom is rare in children but it is
associated with the greatest anxiety. The reaction to
Children with suspected food allergy should be insect stings decreases with age.
assessed by a paediatrician experienced in allergy: a
specialist nurse and a dietician should be available.
Liaison between hospital and community staff, and
Latex
the education of both family and school play an Anaphylaxis to latex is rare in children and is usually
important part. found in those who have had numerous surgical
A major consideration in management is the procedures. Note its cross-reaction with banana.
anxiety that affects both child and carers. Avoidance
of the allergen might be difcult and it is often hard Drugs
for parents to identify suitable foods; the help of an
Vaccines and penicillins account for the majority of
experienced dietician is essential in these matters.
reactions but are rare. Note that MMR immuniza-
Inhaled allergen avoidance is difcult and various
tions can be given to children with egg allergy,
methods are available. Their effectiveness remains
although if there has been previous anaphylaxis to
controversial, however.
egg, or severe co-existing asthma, the vaccine can be
Pharmacological treatment remains standard for
given in hospital. Inuenza vaccine should not be
asthma and eczema. Antihistamines can be useful
given to children with egg allergy.
and immunotherapy might play a greater role in the
future.
Recognition
Respiratory difculty is more common than cardio-
ANAPHYLAXIS vascular collapse. Foods tend to cause respiratory
and airway symptoms whereas injections and stings
Anaphylaxis is a severe allergic reaction that mani- cause cardiovascular symptoms. Initial symptoms
fests with respiratory difculty (wheeze or upper can be subtle and progression rapid.

85
Allergy and anaphylaxis

Respiratory symptoms and signs be referred for allergy testing. The use of an Epipen,
which allows subcutaneous administration of
Cough.
adrenaline, can be life saving but it is essential that
Stridor, hoarseness and drooling.
carers are trained in its use. Only 32% of parents
Facial swelling.
were able to correctly demonstrate correct use in one
Wheeze.
study. The Epipen is only one part of managing
severe allergic reactions. Management should also
Cardiovascular symptoms include:
and signs
Identifying causes.
Feeling faint/dizziness. Education on allergen avoidance.
Syncope. Treatment plan.
Pallor. Training of carers and school.
Tachycardia. Annual re-inforcement.
Note that the cutaneous signs, such as rash, are not
life threatening and might be absent.

Treatment
Epipens in anaphylaxis are useful if
Treatment is intramuscular adrenaline (epineph-
carers are trained in their use.
rine). This acts on the -adrenoreceptors to cause
peripheral vasoconstriction and on -receptors to
cause bronchodilation and inotropic effects; it also
reduces airway swelling. It should be given to all
children with respiratory or cardiovascular symp- Further reading
toms. The intramuscular route is preferred because Clark AT, Ewen PW. The prevention and management of
intravenous administration is thought to have con- anaphylaxis in children. Current Paediatrics 2002;
12:370375.
tributed in some deaths. IV hydrocortisone and anti-
Host A, Halken S. Practical aspects of allergy testing.
histamines should also be administered. Paediatric Respiratory Reviews 2003; 4:312318.
Ives A, Hourihane J. Evidence-based diagnosis of food
allergy. Current Paediatrics 2002; 12:357364.
Johansson SGO et al. A revised nomenclature for allergy. An
PREVENTION EAACI position statement from the EAACI nomenclature
task force. Allergy 2001; 56:813824.
Allergen avoidance is the only preventive measure Rosenthal M. How a non-allergist survives an allergy clinic.
and all children with suspected anaphylaxis should Archives of Diseases in Childhood 2004; 89:238243.

86
Skin disorders 12
Objectives

At the end of this chapter, you should be able to


Describe the different types of eczema and understand its management.
Identify some of the common fungal skin infections.
Understand the management of common infestations like scabies and head lice.

Clinical features
ECZEMA (DERMATITIS)
A dry, red itchy rash occurs that usually starts on,
The term dermatitis refers to an inammation of and has a predilection for, the extensor surfaces and
the skin and is synonymous with eczema (the word face in infants and young children, and the exures
eczema literally means to boil over). Three main (the antecubital and popliteal fossae) in older chil-
varieties occur in infants and children: dren (Fig. 12.2). However, the skin appearance can
vary from an acute, weeping papulovesicular erup-
Infantile seborrhoeic eczema. tion to the chronic, dry, scaly, thickened (licheni-
Atopic eczema. ed) skin that develops in older children. Itching is
Napkin dermatitis. the most important and troublesome symptom.
Affected children might have an eosinophilia and
raised plasma IgE concentration. Histopathological
Infantile seborrhoeic eczema changes include epidermal oedema and vesicle for-
This mild condition presents in the rst 2 months mation, vascular dilatation and cellular inltration.
of life with a scaly, non-itchy rash initially on the
scalp (cradle cap); this might spread to involve the Diagnosis
face, exures and napkin area (Fig. 12.1). Treatment The diagnosis is clinical (see Fig. 12.3 for a compa-
is with emollients and mild topical steroids. rison of atopic and infantile seborrhoeic eczema).
RAST and food challenges are useful in children
with associated difcult to manage asthma.
Atopic eczema
Atopic eczema is very common and affects 1020% Management
of children, usually beginning in the rst 6 months
It is important that the skin is kept hydrated and
of life. There is often a family history of atopic dis-
inammation is reduced. The treatment options
orders (eczema, asthma and hay fever), reecting a
are:
genetic predisposition that confers an abnormal
immune response to environmental allergens. Early Important general measures.
diagnosis and treatment of atopic children with Topical preparations.
antihistamines can reduce the risk of developing Specic treatment for complications such as
asthma in later life. secondary infection.

87
Skin disorders

Mild topical steroids, such as 1% hydrocortisone


(ointment rather than cream when the skin is dry),
applied to the affected areas twice daily are highly
Having a child with severe eczema can
effective. More potent preparations can be used
be quite distressing to parents. In
short term for exacerbations but only weak steroids
addition to the treatment with steroids
should be applied to the face. Severe eczema can be
and emollients, it is also important to keep the child
treated with wet wraps in hospital to maximize
comfortable by reducing the itch by using cotton
hydration.
fabrics, non-biological detergents and avoiding
A new class of drugtopical immunomodula-
fabric softeners. Cigarette smoke, dander from furry
tors, e.g. tacrolimus creamis available and has the
pets, house dust and grass pollen can also aggravate
advantage of few side effects and low systemic
the condition. Nails should be kept short and
absorption.
excessive heat avoided. Using hand mittens at night
will also prevent excessive scratching. Many children
eventually grow out of their eczema by their teens.

Medical management
Topical preparations
The mainstays of management are:
Emollients.
Topical steroids.
Emollients moisturize and soften the skin. They are
safe and should be used frequently. A daily bath
using bath oil and aqueous cream as a soap substi-
tute is advisable, with regular application of an
emollient two or three times daily. Fig. 12.1 Distribution of infantile seborrhoeic eczema.

Predominant Infant Young child Older child


areas: Face Extensor surfaces Flexor surfaces

Fig. 12.2 Distribution of atopic eczema.

88
Infections 12

Fig. 12.3 Differences between


Differences between infantile seborrhoeic eczema and atopic eczema infantile seborrhoeic eczema and
atopic eczema.
Infantile seborrhoeic eczema Atopic eczema

Age <3 months (usually) >3 months (usually)

Sleeping Unaffected Disturbed

Pruritus Nil Significant

Family history of atopy Usually negative Often positive

Course Self-limiting Chronic, relapsing

Nappy rash can be prevented by frequent nappy


changes (easier with disposable nappies) and barrier
creams such as zinc and castor oil cream. Exposure
In atopic eczema:
to air can hasten recovery but it is often impractical
Treat dry skin with emollients.
to implement this at home.
Inamed skin with topical steroids.
Consider infection if not responding to treatment. Candidiasis
Candidiasis is also common and is distinguished
by bright red skin with satellite lesions and in-
volvement of the skin folds. Candidal infection
Complications can be treated with an anticandidal and hydro-
The most important is secondary infection with cortisone preparation, such as miconazole with
either viruses or bacteria. Infection with herpes hydrocortisone.
simplex (eczema herpeticum) is potentially serious
and should be treated with aciclovir. Bacterial super-
infection is usually caused by staphylococci or strep-
tococci and requires systemic antibiotic treatment.
Atopic dermatitis persists into adulthood in up Causes of an itchy rash:
to 60% of all children and particularly in those with Atopic eczema.
early onset, severe disease and associated asthma Scabies.
and hay fever. Papular urticaria.
Urticaria (hives).
Napkin dermatitis Chickenpox.

Rashes in the napkin area are common and can be


due to:
An irritant contact dermatitis (nappy rash).
Candidiasis. INFECTIONS
Seborrhoeic dermatitis.
Bacterial
Clinical features Bacterial infections of the skin in children include
Nappy rash common and important entities such as:
Ordinary nappy rash is due to the prolonged contact
Impetigo.
of urine and faeces with skin. Particular causes
Boils and furuncles.
include skin wetness and ammonia from the break-
Staphylococcal scalded skin syndrome.
down of urine by faecal enzymes. The skin is red,
Erysipelas.
moist and might ulcerate. The inguinal folds are
spared. These are considered in Chapter 10.

89
Skin disorders

Viral They also affect some animal species (e.g. cattle and
cats).
Viral warts
Hands and feet Clinical features
The human papilloma virus (HPV) causes viral Clinical features vary with the site of infection.
warts. Two types are seen:
Tinea capitis (scalp ringworm)
Skin warts are common on the ngers and soles
On the scalp, tinea causes patchy alopecia and occa-
in school-age children.
sionally a boggy inammatory mass called a kerion.
Plantar warts (verrucae) are at, hyperkeratotic
lesions on the soles of the feet. Tinea corporis (body ringworm)
On the trunk, tinea appears as annular lesions
Most viral warts resolve within a year when immu-
with central clearing and a palpable, erythematous
nity develops. Treatment options include:
border.
Salicylic and lactic acid paint.
Cryotherapy with liquid nitrogen. Tinea pedis (athletes foot)
This presents as itchy, scaling and cracking of the
Repeat treatments over many weeks are required. skin of the feet, especially between the toes.
Other sites
Viral warts also occur in other locations: Diagnosis
Laryngeal papillomas are found on the vocal Examination under ultraviolet light (Woods) shows
cords. a greenyellow uorescence of infected hairs with
Genital warts (condylomata acuminata) are certain fungal species. Diagnosis can be made by
papular or frond-like growths in the perineal microscopic examination of skin scrapings for fungal
area. hyphae. Culture of the organism is denitive.

These can be a sign of sexual abuse in young


Treatment
children.
This varies with the severity of infection:
Molluscum contagiosum Mild infections are treated with topical
This common eruption in children is caused by the antifungal preparations such as clotrimazole or
mollusci poxvirus. miconazole.
Clinical features Severe infections require systemic treatment
Smooth, pearly papules with an obvious central with griseofulvin for several weeks.
dimple arise in crops (often on the trunk). They are
not irritating and are of low infectivity. Candidiasis (thrush, moniliasis)
Management Candida albicans, a yeast (budding, unicellular
The papules resolve spontaneously without scarring organism), is the most common pathogen. The
usually within 6 months to 2 years and treatment is organism colonizes the skin and mucous mem-
not required, although cryotherapy can be used if branes. Transmission is via person-to-person contact,
rapid removal is required. contaminated feeding bottles, etc.

Fungal Clinical features


These include the dermatophytosis (ringworm) and In infants, candidal infections frequently involve the
candidiasis (thrush). oral cavity (thrush) or the napkin area. It is acquired
from the mothers vaginal ora. It can also affect the
Dermatophytoses (tinea capitis, nipples of breastfeeding mothers.
corporis, pedis and unguium)
Dermatophytes are lamentous fungi that infect the Diagnosis
outer layer of the skin and also the hair and nails. Diagnosis is clinical:

90
Infestations 12

Oral thrush presents as white plaques on the Diagnosis


tongue and buccal mucosa.
Diagnosis is clinical and might (if necessary) be
Monilial dermatitis: localized shiny redness
conrmed by identication of mites or ova in scrap-
typically affecting moist areas and not sparing
ings from burrows or vesicles.
exural skin creases (this may occur in the
absence of oral thrush).

Management
Topical nystatin is rst-line therapy. Oral treatment Suspect scabies when:
should be given as well as direct treatment to lesions There is itching in the family.
in perineal disease. Itchy papules or blisters are present on the soles
Prevention requires good hygiene and rigorous of the feet.
disinfection of feeding bottles and dummies.
Chronic or recurrent mucocutaneous candidiasis
should raise the suspicion of immunodeciency.
Treatment
Treatment is permethrin cream 5%. This is for two
INFESTATIONS consecutive dayscovering the body from the neck
down. In infants, the scalp and face should be
included. It can take several weeks for the pruritus
Papular urticaria
to subside after successful treatment as hypersensi-
This term describes crops of itchy, erythematous tivity persists. This can be managed with oral anti-
papules or small blisters. They are caused by insect histamines and topical steroids.
bites, most commonly by the eas or mites from
domestic dogs or cats; bedbugs can also be the cul-
prits. Secondary infection might occur.

Scabies It is important to treat all contacts.


Scabies is caused by the mite, Sarcoptes scabiei. It is Parents should also be advised to wash
transmitted by prolonged skin-to-skin contact. In all clothes and bedding to prevent reinfection.
the rst infestation, the incubation period can be up
to 8 weeks. The fertilized adult female mite burrows
deep in the stratum corneum laying two or three
eggs a day until she dies after about 5 weeks. The Head lice (Pediculosis capitis)
eggs hatch after a few days and larvae move on to Pediculosis capitis is a blood-sucking arthropod that
the skin surface, maturing into adults in 1014 infests the scalps of up to 10% of school children in
days. some urban areas. Transmission is by head-to-head
contact. The head louse prefers clean hair and does
Clinical features not discriminate between social groups.
The rst symptom is pruritus (this is worse at night),
which is related to hypersensitivity to the mite or its Clinical features and diagnosis
faeces. The presence of burrows is pathognomonic. The louse egg is attached to the base of the scalp hair
Common sites for burrows are the interdigital webs and is visible as a small, white, grain-like particle.
and the anterior aspects of the wrists. In infants, the Eggs hatch after a week and the louse lives for 23
soles of the feet, head and neck are commonly months. Many infestations are asymptomatic but
affected. the most common manifestation is severe itching of
The rash consists of vesicles, weals and papules, the scalp often accompanied by enlarged cervical
which may become excoriated and secondarily lymph nodes. Nits are the egg cases and only nding
infected. a louse is diagnostic.

91
Skin disorders

Treatment Treatment
Treatment is with 0.5% malathion lotion, which Treatment options include:
should be left on for 12 hours. The hair is then
Topical treatment with keratolytic agents, e.g.
washed with ordinary shampoo and the dead nits
benzoyl peroxide.
removed with a ne-toothed metal comb. All the
Ultraviolet light therapy: exposure to natural
family should be treated. Clothing and bedding is
sunlight should be encouraged.
disinfected by machine washing (cycles over 50C
Oral antibiotics: low-dose therapy with
inactivate lice and nits).
minocycline, oxytetracycline (>12 years age) or
erythromycin is useful for moderate to severe
pustular acne. Antibiotics are given for at least 3
OTHER CHILDHOOD months.
SKIN DISEASES The vitamin A analogue, 13-cis-retinoic acid:
for severe acne that has not responded to
Pityriasis rosea conventional treatment. This should be
prescribed only by a dermatologist.
This common, acute, benign and self-limiting con-
dition is thought to be of viral origin. It begins with
a herald patch, an oval or round, scaly, erythema- Urticaria (hives)
tous macule on the trunk, neck or proximal part of Urticaria is a transient, itchy, erythematous rash
limbs. This is followed within 13 days by a shower characterized by the presence of raised weals
of smaller dull pink macules on the trunk in a so- (hives). It is induced by mast cell degranulation, in
called Christmas tree pattern following the lines of which histamine and other vasoactive mediators are
the ribs. Spontaneous resolution occurs within 68 released causing vasodilatation and an increase in
weeks. capillary permeability. Most cases are caused by viral
No treatment is required. infections but an allergy history is needed to exclude
allergic causes.
Acne vulgaris
This is a chronic inammatory disorder of the seba- Clinical features
ceous glands and probably reects an abnormal
response to circulating androgens. It is an almost Urticaria can be accompanied by oedema of the
universal problem of adolescence, peaking in sever- lips and eyes (angioedema). Involvement of the lips
ity at age 1618 years. and tongue is an emergency because there is a risk
of respiratory obstruction. Chronic urticaria can
Clinical features occur and usually clears spontaneously in about 6
months.
A variety of lesions occur on the face and upper
trunk. Characteristically, comedones occur: plugs of
keratin and sebum within the dilated orice of a hair Management
follicle. These can be open (blackheads) or closed Acute urticaria usually resolves spontaneously
(whiteheads). They progress to papules and pustules within a few hours. If itchy, it can be treated with
(bacterial superinfection) and in severe cases to cystic an antihistamine, e.g. chlorpheniramine maleate.
and nodular lesions, which can cause scarring. Precipitating factors should be avoided.

92
Cardiovascular disorders 13
Objectives

At the end of this chapter, you should be able to


Distinguish between cyanotic and acyanotic congenital heart disease.
Understand the pathology and clinical features of common congenital heart disease.
Understand the common inammatory conditions affecting the heart.

In developed countries, congenital heart disease Initial evaluation should include a chest X-ray
(CHD) accounts for the majority of cardiovascular (CXR) and electrocardiogram (ECG), although these
problems in infants and children. With improved investigations do not usually provide a lesion diag-
cardiac surgery, 8085% of children with congenital nosis. Diagnosis is usually achieved by a combina-
cardiac disease survive into adulthood. In contrast tion of echocardiography and Doppler ultrasound.
to its incidence in adults, ischaemic heart disease is Common investigations are shown in Fig. 13.3.
rare in children although it can occur in Kawasaki
disease. Arrhythmias are very rare, with the excep- Acyanotic congenital
tion of supraventricular tachycardias (SVTs). Im- heart disease
portant infections that affect the cardiovascular
system (CVS) are infective endocarditis and viral These conditions are caused by lesions that allow
myocarditis. blood to shunt from the left to the right side of the
circulation, or which obstruct the ow of blood by
narrowing a valve or vessel.

CONGENITAL HEART Left to right shunts (L to R)


DISEASE (CHD) Atrial septal defect (ASD)
There are two types of ASD:
CHD comprises the most common group of struc-
tural malformations, affecting 68 out of 1000 live- The most common ASD (6 in 10 000 live
born infants. A number of important causative births) is an ostium secundum defect, high in
factors are recognized (Fig. 13.1) but, in the major- the atrial septum. It is more common in girls
ity of cases, the cause is unknown. CHD presents or (F : M = 2 : 1) and accounts for 6% of all cases of
might be diagnosed in a limited number of ways. CHD.
These include: Much less common is the ostium primum type,
which occurs lower in the atrial septum (often
Antenatal diagnosis by ultrasound.
associated with mitral regurgitation), and is a
Heart murmur.
common defect in Down syndrome.
Cyanosis.
Shock: low cardiac output. Secundum defects are usually asymptomatic in
Cardiac failure (see Chapter 2). childhood. The left to right shunt develops very
slowly and pulmonary hypertension is extremely
Although there are over 100 different cardiac mal-
uncommon. It is important to distinguish ASDs
formations, a small number account for the major-
from patent foramen ovale (PFO), which is present
ity of cases (Fig. 13.2). These are conveniently
in one-third of all children. The patent foramen
classied into:
opens only in conditions of raised atrial pressure
Acyanotic forms. or volumes, whereas ASDs are large and always
Cyanotic forms. open.

93
Cardiovascular disorders

Clinical features The clinical features include: be done in the cardiac catheter laboratory. Endocar-
ditis prophylaxis is not required for children with
Abnormal right ventricular impulse.
isolated secundum ASD.
Widely split and xed second sound (S2).
Tricuspid ow murmur: rumbling mid-diastolic Ventricular septal defect (VSD)
murmur at the left sternal edge. Most are single, although multiple defects do occur
Pulmonary ow murmur: soft, ejection systolic and other heart defects coexist in about one-third of
murmur in the pulmonary area. children. The natural history and prognosis depends
on the:
No murmur is generated by the low velocity ow
across the ASD. A signicant left to right shunt gen-
erates ow murmurs at the tricuspid and pulmonary
valves.
Causes of congenital heart disease
Diagnosis The CXR shows pulmonary plethora
and the ECG shows right ventricular hypertrophy Genetic chromosomal disorders
with incomplete right bundle branch block. Down syndrome, e.g. atrioventricular septal defect
Turner syndrome, e.g. aortic stenosis, coarctation of aorta
Echocardiography is diagnostic without cardiac chromosome 22 deletions
catheterization. Williams syndrome, e.g. supravalvular aortic stenosis
Teratogens
Management Treatment is surgical and aims to Congenital rubella, e.g. PDA, pulmonary stenosis
Alcohol, e.g. ASD, VSD
prevent cardiac failure and arrythmias in later life.
This is best done at 35 years of age and 30% can Fig. 13.1 Causes of congenital heart disease.

Fig. 13.2 Common forms of CHD.


Common forms of congenital heart disease

Type Name Abbreviation % of CHD

Acyanotic Ventricular septal defect VSD 32


Patent ductus arteriosus PDA 12
Pulmonary stenosis PS 8
Atrial septal defect ASD 6
Coarctation of the aorta COA 6
Aortic stenosis AS 5

Cyanotic Tetralogy of Fallot 6


Transposition of the great arteries TGA 5

Fig. 13.3 Investigations in CHD.


Investigations in congenital heart disease

Investigation Demonstrates

CXR Cardiac shadowmay be enlarged or abnormal


Lung fieldspulmonary vascular markings may be:
Increased (plethora): Signifiant L to R shunt, e.g. VSD
Decreased (oligaemia): Reduced pulmonary blood flow,
e.g. pulmonary stenosis

ECG Rate and rhythm of heart


Mean QRS axis
Hypertrophy of either ventricle

Echocardiogram Precise anatomical abnormality

Cardiac catheter Physiological/haemodynamic status rather than anatomy

94
Congenital heart disease (CHD) 13

Size and position of the defect. Heart failure, if present, should be treated with
Development of changes due to blood shunting diuretics and angiotensin-converting enzyme (ACE)
from left to right through the defect. This inhibitors. Spontaneous improvement occurs in
includes narrowing of the right ventricular many childhood cases and surgical correction can
outow tract and progressive pulmonary be avoided. However, if there is still evidence of a
hypertension, both of which reduce the size of signicant shunt at 4 years, closure should be con-
the shunt. sidered before the child starts school.
Large VSD
Heart failure develops early on, especially if a chest
infection occurs. The cardiac signs are similar to
those of a medium VSD but it is worth noting that
A ventricular septal defect is the most the systolic murmur might be soft in a very large
common variety of congenital heart defect. The defect tends to be larger than the cross-
disease. It accounts for one-third of all cases. sectional area of the aortic valve.
Initial medical treatment of the heart failure is
required and surgical closure under cardiopulmo-
nary bypass is usually necessary. In young infants
The clinical features, treatment and outcome are
with multiple defects, banding of the pulmonary
best considered separately for the different sizes of
artery allows a temporary respite until the child is
defect.
big enough for denitive correction. An example of
Small VSD (maladie de Roger) a VSD is shown in Fig. 13.4.
The child is asymptomatic and the murmur is
Patent ductus arteriosus (PDA)
often rst noted on routine examination. The only
The ductus arteriosus connects the aorta to the left
abnormality is a pansystolic murmur (sometimes
pulmonary artery and usually closes by the fourth
with a palpable thrill) at the lower left sternal
day of life. A PDA is diagnosed if the duct does not
border.
close after 1 month of life. Risk factors include
Antibiotic prophylaxis against bacterial endocar-
preterm infants, Down syndrome and high altitudes.
ditis is necessary for dental extractions but no other
PDA seen in preterm infants is a distinct clinical
treatment is required. Spontaneous closure might
entity from congenital PDA in term infants.
occur.
Medium VSD
These usually present with symptoms during infancy
including slow weight gain, difculty with feeding
and recurrent chest infections. In time, symptoms The risk of developing pulmonary
might actually disappear due to relative or actual vascular disease or infective endocarditis
closure of the defect. is higher in PDA than VSD and surgical
On examination, there may be: closure is recommended for all PDAs. This can be
achieved by division, ligation, or transvenous
An increased cardiac impulse.
umbrella occlusion.
Palpable thrill.
Harsh pansystolic murmur, loudest in the third
and fourth left intercostal spaces.
Clinical features A shunt develops between the
If the pulmonary blood ow is high, a mid-diastolic
aorta and pulmonary artery. The clinical features
murmur occurs due to blood ow across the normal
include:
mitral valve.
A CXR will show moderate cardiac enlargement, Bounding pulses: wide pulse pressure.
a prominent pulmonary artery and increased vascu- Murmur: initially systolic. As pulmonary
larity of the lungs. Echocardiography will show the vascular resistance falls a continuous run-off
position of the defect. The shunt is measured by from the aorta to the pulmonary artery occurs
Doppler studies. with a continuous machinery murmur.

95
Cardiovascular disorders

Fig. 13.4 Ventricular septal defect


and chest X-ray changes.

RL
shunt

Enlarged heart
Enlarged pulmonary arteries
VSD Increased pulmonary
Vascular markings

RV LV

Ventricular septal defect

The PDA is commonly asymptomatic. If the duct is


large, a signicant left to right shunt develops as
pulmonary vascular resistance falls and cardiac
The key to clinical diagnosis of
failure occurs.
coarctation of the aorta is weak or
Diagnosis CXR and ECG changes with a large absent femoral pulses.
symptomatic PDA are similar to those seen in a
patient with a large VSD. The CXR is usually normal
but in large PDAs increased pulmonary markings
Preductal coarctation: symptomatic infants
are seen.
The abnormal circulation is often diagnosed ante-
A PDA can be directly visualized by two-
natally but after birth it presents as a sick neonate
dimensional echocardiography and the ductal shunt
with absent femoral pulses. While the ductus arteri-
can be conrmed by Doppler ultrasound.
osus is open the right ventricle can maintain ade-
Management The duct can be closed in the cardiac quate cardiac output to the systemic circulation.
catheter laboratory at 1 year of age but, if large, it There is usually no murmur and cardiac failure
might need surgical closure at 13 months. occurs when the duct closes.
On diagnosis, prostaglandin infusion to main-
Obstructive lesions tain ductal patency and transfer to a cardiac centre
for surgery is indicated.
Coarctation of the aorta (COA) Postductal coarctation: asymptomatic children
This accounts for about 6% of CHDs and has a male Although usually asymptomatic, there might be leg
preponderance (M : F = 2 : 1). There is a narrowing pains or headache. On examination, there is hyper-
of the aorta, which can be preductal or postductal. tension in the arm and weak or absent femoral
The site and severity of the coarctation determines pulses. There might be an ejection click (due to an
the clinical features, which range from a severely ill associated bicuspid aortic valve) and a systolic ejec-
newborn to an asymptomatic child, or adult, with tion murmur audible in the left interscapular area.
hypertension. Surgical correction is required. Options include:

96
Congenital heart disease (CHD) 13

Balloon dilatation.
The four cardinal anatomical features of the tetralogy of Fallot
Resection of the coarcted segment with end-to-
end anastomosis.
ARight
large VSD

Aortic stenosis (AS) Infundibular


ventricular outflow tract (RVOT) obstruction:
stenosis (50%)
This accounts for 5% of all CHDs and has a male Pulmonary valve stenosis (10%)
Combination of above (30%)
preponderance (M : F = 4 : 1). Symptoms and signs
Aorta over-riding the ventricular septum
depend on the severity of the stenosis: Right ventricular hypertrophy

Children with mild or moderate stenosis


present with an asymptomatic murmur and a Fig. 13.5 The four cardinal anatomical features of tetralogy
of Fallot.
thrill often conducted to the aorta and the
suprasternal notch.
Severe stenosis can present with heart failure in
the infant or with chest pain on exertion and Tetralogy of Fallot
syncope in older children.
This represents 610% of all CHDs and is the most
Sustained, strenuous exercise should be avoided in common cause of cyanotic CHDs presenting beyond
children with moderate to severe AS. Surgical treat- infancy. The four cardinal anatomical features are
ment depends on the severity and site of the steno- shown in Fig. 13.5.
sis. Options include balloon or surgical valvotomy.
Clinical features
Aortic valve replacement is often required for neo-
Most patients present with cyanosis in the rst 12
nates and children with a signicant stenosis requir-
months of life. Hypoxic (hypercyanotic) spells are a
ing early treatment.
characteristic feature, as is squatting on exercise
Pulmonary stenosis (PS) which develops in late infancy.
This accounts for about 8% of CHD and might be Clinical signs include:
valvular (90%), subvalvular (infundibular) or supra-
Cyanosis with or without clubbing.
valvular. Infundibular PS occurs in association with
Loud and single S2.
a large VSD as part of the tetralogy of Fallot.
Loud ejection systolic murmur maximal at the
Most cases are mild and asymptomatic. The clini-
third, left intercostal space.
cal features include:
Diagnosis
Widely split S2, with soft pulmonary
The ECG shows right axis deviation and right ven-
component (P2).
tricular hypertrophy but normal at birth. The CXR
Systolic ejection click (valvular PS).
shows a characteristic boot-shaped heart caused by
A systolic ejection murmur maximal at the
right ventricular hypertrophy and a concavity on the
upper left sternal border, radiating to the back.
left heart border where the main pulmonary artery
Treatment options include transvenous balloon dil- and RV outow tract normally create a convexity
atation or pulmonary valvotomy. (Fig. 13.6). Pulmonary vascular markings are dimin-
ished. Congestive cardiac failure does not occur in
Cyanotic congenital heart disease tetralogy of Fallot.
There are two principal pathophysiological mecha- Management
nisms for cyanosis in congenital heart disease: Prolonged hypercyanotic spells require treatment
with:
Decreased pulmonary blood ow with shunting
of deoxygenated blood from the right side of Morphinerelieves pain and abolishes
the circulation to the left (systemic circulation), hyperpnoea.
e.g. tetralogy of Fallot. Sodium bicarbonate (IV) to correct acidosis.
Abnormal mixing of systemic and pulmonary Propranolol to cause peripheral
venous return, usually associated with an vasoconstriction and relieve infundibular
increased pulmonary blood ow, e.g. spasm. Oral propranolol can prevent hypoxic
transposition of great arteries (TGA). spells.

97
Cardiovascular disorders

Fig. 13.6 Tetralogy of Fallot and


CXR changes.

Aorta over-riding
ventricular septum

VSD

Right ventricular
outflow
tract obstruction Small heart
Uptilted apex
Pulmonary artery 'bay' (arrow)
Oligaemic lung fields
Right ventricular
hypertrophy

Tetralogy of Fallot

Denitive treatment is surgical. Palliative procedures


might be required in infants with severe cyanosis or
Aorta arising PA arising
uncontrollable hypoxic spells. Pulmonary blood from RV from LV
ow is increased by creating a shunt between the
subclavian and the pulmonary arteries. Corrective
total repair can now be carried out from 46 months
of age. This involves patch closure of the VSD and
widening of the right ventricular outow tract.

Transposition of the great arteries


This accounts for about 5% of CHDs and is more
common in males (M : F = 3 : 1). In complete or
D-transposition:
The aorta arises anteriorly from the right PDA
ventricle. ASD or VSD
allow mixing
The pulmonary artery arises posteriorly from
the left ventricle (Fig. 13.7).
Clearly, if completely separate, two such parallel
circulations would be incompatible with life, but Fig. 13.7 Transposition of the great arteries.
defects allowing mixing of the two circulations
coexist. These include ASD, VSD or PDA.
The second sound is single and loud. If the ven-
Clinical features
tricular septum is intact, no heart murmur is audible.
Most cases present with severe cyanosis, often within
The systolic murmur of a VSD or PDA might be
the rst day or two of life. Spontaneous closure of
present.
the ductus arteriosus reduces mixing of the systemic
and pulmonary circulations. Arterial hypoxaemia is Management
often profound (PaO2 13 kPa) and unresponsive The immediate aim is to improve mixing of satu-
to O2 inhalation. rated and unsaturated blood. In the sick, cyanosed

98
Rheumatic fever 13

newborn, an infusion of prostaglandin (PG) E1 is festation. Hard subcutaneous nodules occur on the
started to reopen the ductus arteriosus. Emergency extensor surfaces in a minority of cases.
cardiac catheterization and therapeutic balloon Sydenhams chorea is a late manifestation occur-
atrial septostomy (Rashkind procedure) is a life- ring 26 months after streptococcal infection in
saving palliative procedure. Denitive repair is 10% of patients. There is emotional lability fol-
usually achieved with an arterial switch procedure, lowed by involuntary, random, jerky movements
which can be performed at a few weeks of age. The lasting 23 months. Recovery is usually complete.
pulmonary artery and aorta are transected and
switched over. Diagnosis
The diagnosis is clinical and is based on a modied
version of the Duckett Jones criteria (Fig. 13.8).
Diagnosis requires evidence of a preceding strep-
tococcal infection together with two major criteria
Mixing of blood from left and right sides or one major and two minor criteria. The former is
in cyanotic congenital cardiac disease is usually done serologically by nding an increase in
essential and might be done through a antibodies to various streptococcal antigens, e.g.
patent ductus arteriosus. A prostaglandin infusion antistreptolysin O titre. Throat swab is often nega-
can open the ductus, allowing mixing. tive at the time of presentation.
Laboratory investigations in a suspected case
include:
ESR, C-reactive protein (CRP): elevated.
RHEUMATIC FEVER Antistreptolysin O titre: might be elevated.
Throat swab: usually negative at time of
Acute rheumatic fever is a sequela of group A - presentation.
haemolytic streptococcal infection, usually a tonsil- ECG: prolonged P-R interval.
lopharyngitis. It is caused by an abnormal immune Echocardiography: might show evidence of
response that occurs in less than 1% of patients with carditis.
streptococcal infection. Although the disease has
largely been eradicated in developed countries with Management
improved sanitation and the use of antibiotics for
tonsillitis, it remains the most common cause of The acute episode is treated by:
cardiac valvular disease worldwide. It mainly affects Bed rest.
children aged between 5 and 15 years. High-dose aspirin to suppress fever and
arthritis.
Clinical features
Polyarthritis, fever and malaise develop 26 weeks
after the pharyngeal infection. The arthritis is eet-
Modified Duckett Jones criteria (2 major or 1 major and 2 minor)
ing, lasting less than a week in individual joints and
commonly affects the large joints such as the knees Major Minor
and ankles.
There is a pancarditis in 50% of patients: Carditis Fever

Polyarthritis Arthralgia
Pericarditis can cause a friction rub and
pericardial effusion. Chorea Previous rheumatic fever
Myocarditis can cause heart failure.
Erythema marginatum Positive acute-phase reactant
Endocarditis commonly affects the left-sided (ESR, CRP)
valves leading to murmurs, e.g. of mitral Leucocytosis
Subcutaneous nodules Prolonged P-R interval on ECG
incompetence.
Erythema marginatumpink macules on the trunk Fig. 13.8 Modied Duckett Jones criteria for diagnosis of
and limbsis an uncommon painless, early mani- rheumatic fever.

99
Cardiovascular disorders

Steroids for severe carditis. Diagnosis


Diuretics and ACE inhibitors for heart failure.
It is important to stress that endocarditis is a clinical
Antibiotics if there is evidence of persisting
and laboratory diagnosis.
streptococcal infection.
Blood cultures: at least three should be
Recurrent attacks should be prevented by prophylac-
obtained in the rst 24 hours of
tic penicillin (given either orally or as monthly
hospitalization. The causative organismmost
intramuscular injections of benzathine penicillin).
commonly Streptococcus viridans (-haemolytic
Lifelong prophylaxis has been advocated.
streptococcus)is identied in 90% of cases.
Cross-sectional echocardiography: although this
Complications might conrm the diagnosis by the
Rheumatic valvular disease is the most common identication of vegetations, it cannot exclude
form of long-term damage, its severity increasing it. Vegetations might persist after successful
with the number of acute episodes. There is scarring antibiotic treatment has been completed.
and brosis of valve tissue, most commonly affect- Acute-phase reactants: elevated.
ing the mitral valve.
Management
Treatment comprises 46 weeks of intravenous anti-
CARDIAC INFECTIONS biotics, e.g. high-dose ampicillin with an aminogly-
coside. Surgical removal of infected prosthetic
These are uncommon and include: material might be required.
Infective endocarditis.
Myocarditis.

Infective endocarditis
Antibiotic prophylaxis against infective
This may be dened as infection of the endocardium endocarditis is essential for dental or
or endothelium of the great vessels. It is a cause of surgical treatment in all children with
great morbidity and prevention in high-risk groups congenital heart disease except osteum secundum
by using prophylactic antibiotics is essential. defects.

All children with congenital heart disease


Parents should be given
are at risk of bacterial endocarditis.
adequate information about
endocarditis prophylaxis at the
time of diagnosis of the heart
Clinical features lesion, so that this does not get missed when the
Endocarditis should be suspected in any child with child has to undergo a minor procedure.
fever and a signicant cardiac murmur. The clinical
features are caused by:
Bacteraemia: fever, malaise. Myocarditis
Valvulitis: cardiac failure and murmurs.
This uncommon disease primarily affects infants
Immunological causes: glomerulonephritis.
and neonates. Coxsackie and echoviruses, as well as
Embolic causes: CNS abscess, splinter
rubella, have been associated with myocarditis. It
haemorrhages.
can present acutely with cardiovascular collapse or
Non-cardiac manifestations are less common in slowly with a gradual onset of congestive cardiac
children than in adults. failure.

100
Cardiac arrhythmias 13

Treatment is supportive. Most children recover but In sinus rhythm, the WolffParkinsonWhite syn-
some develop a chronic dilated cardiomyopathy. drome might be evident if there is an accessory
bundle allowing premature activation of the ventri-
cles. The PR interval is short and there is a wide QRS
CARDIAC ARRHYTHMIAS with slurred upstroke (delta wave).

Sinus arrhythmia is more pronounced in children Management


and shows as an increase in heart rate during inspi- An acute episode can be terminated and sinus
ration and slowing during expiration. Normal sinus rhythm restored by:
rhythm can be up to 210 beats/min and premature
atrial and ventricular contractions are common and Vagal stimulation: applying an ice-cold
benign. compress to the face or carotid sinus
massage.
Supraventricular tachycardia Intravenous adenosine: safe and effective.
Synchronized DC cardioversion: if the above
The child has a heart rate >220/min and often is
fail.
asymptomatic, although infants can develop cardiac
failure. An accessory connection can be present in The prognosis is good in the majority of cases.
up to 95% of all young children and infants. Ninety per cent of children will have no further
episodes after infancy (over 1 year old). Radio-
Clinical features frequency ablation of the bypass tract has been used
Most children are asymptomatic but infants might for those with persistent, frequently recurring
present with signs of cardiac failure, such as poor paroxysms.
feeding, sweating and irritability. Older children
might describe palpitations. Further reading
Ferrieri P et al. Unique features of endocarditis in
Diagnosis childhood. Pediatrics 2002; 109(5):931944.
Johnson Jr WH, Moller JH. Pediatric Cardiology.
The ECG usually shows a narrow complex tachycar- Philadelphia: Lippincott Williams & Wilkins,
dia with P waves discernible after the QRS complex. 2001.

101
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Disorders of the 14
respiratory system
Objectives

At the end of this chapter, you should be able to


Understand the common upper respiratory tract infections in children.
Understand the aetiology, clinical features and management of pneumonia in
children.
Identify the clinical features of bronchiolitis.
Understand the aetiology, clinical features and management of chronic asthma.
Outline the management of acute severe asthma in children.
Understand the aetiology and clinical features of cystic brosis in children.

Respiratory tract infections are the most common The common cold
infections of childhood and range from trivial to
(acute nasopharyngitis)
life-threatening illnesses; 90% of these infections are
caused by viruses. They are classied into upper This is a viral infection causing a clear or mucopu-
respiratory tract infections (URTIs) and lower respi- rulent nasal discharge (coryza), cough, fever and
ratory tract infections (LRTIs). The other common malaise. Although over 200 viral types are known,
and important diseases of this system are asthma 2540% of colds are caused by rhinoviruses. Symp-
and cystic brosis. tomatic treatment (e.g. paracetamol) is all that is
Children are more susceptible to respiratory tract required for this self-limiting illness as no known
infections than adults for many reasons: treatment affects clinical outcome. Young infants,
who are obligate nose-breathers, might experience
Chest wall is more compliant than that of an feeding difculties.
adult.
Fatiguability of respiratory muscles. Sore throat (pharyngitis
Increased mucous gland concentration.
Poor collateral ventilation.
and tonsillitis)
Low chest wall elastic recoil. These are commonly viral, especially in the under
3 year olds, but might also be caused by group A
-haemolytic streptococci. Children present with a
sore throat, fever and constitutional upset. It is very
difcult to distinguish viral and bacterial infection
Parental smoking should be discouraged clinically. However, a purulent exudate, lymphade-
because passive smoking worsens nopathy and severe pain suggest a bacterial cause.
symptoms of all respiratory disease.
Treatment
Most treatment is symptomatic as there is no evi-
dence that antibiotics prevent complications.
UPPER RESPIRATORY
TRACT INFECTIONS Complications
These include:
The upper respiratory tract comprises the ears, nose,
throat, tonsils, pharynx and sinuses, together with Retropharyngeal abscess.
the extrathoracic airways. Peritonsillar abscess (quinsy).

103
Disorders of the respiratory system

Post-streptococcal glomerulonephritis or membrane. Decongestants and antibiotics are widely


rheumatic fever. used but have unproven value. A low-power hearing
aid might be required.
Tonsillectomy is now less commonly performed
than it used to be. Indications include recurrent
Obstructive sleep apnoea (OSA)
tonsillitis, quinsy or obstructive sleep apnoea.
This is increasingly recognized in children. There is
Acute otitis media usually a history of snoring and associated apnoea.
It can be associated with failure to thrive, daytime
The cause of this can be virale.g. respiratory somnolence, behavioural problems and poor school
syncytial virus (RSV) inuenzaor bacterial performance. Long-term complications include cor
(Pneumococcus species, Haemophilus inuenzae, group pulmonale. Gold standard diagnosis is by polysom-
B streptococci, Moraxella catarrhalis). It is very com- nography. Children at high risk of OSA include
mon in preschool children, who present with fever, those with craniofacial abnormalities. Treatment is
vomiting and distress. It is important to examine the by adenotonsillectomy with nocturnal continuous
eardrums in any ill and febrile toddler, as only older positive airway pressure (CPAP) if there is no
children will localize the pain to the ear. improvement with surgery.

Clinical features Croup


Examination reveals a red eardrum with loss of the Croup, or viral laryngotracheobronchitis, is most
light reex. The eardrum might bulge and perfora- commonly caused by the parainuenza virus. It has
tion might occur, with a purulent discharge. a peak incidence in winter in the second year of
life.
Management
Symptomatic treatment is usually all that is needed;
Clinical features
amoxicillin can reduce symptoms but not Symptoms of upper respiratory tract infection
complications. (coryza, fever) are usually present for a day or two
Recurrent infections are associated with otitis before the onset of a characteristic barking (sea
media with effusion. Mastoiditis and meningitis are lion) cough and stridor (which is caused by sub-
now uncommon complications of acute otitis glottic inammation and oedema). Symptoms typi-
media. cally start, and are worse, at night.

Otitis media with effusion Management


(OME, secretory otitis media, Most children are mildly affected and improve
spontaneously within 24 hours. Management at
glue ear)
home is symptomatic and duration of symptoms 3
In young children who are prone to recurrent upper days. About 1 in 10 children require hospitalization
respiratory tract infections, it is common for the because of:
middle ear uid to persist (an effusion), causing a
More severe illness.
conductive hearing loss and an increased suscepti-
Young age (under 12 months).
bility to re-infection. An effusion can also occur
Signs of dehydration and fatigue or respiratory
without a history of acute infections and is probably
failure.
due to poor Eustachian tube ventilation due to
enlarged adenoids or allergy. The effusion and There is evidence that a single dose of dexametha-
resulting hearing impairment is often transient but, sone 0.15 mg/kg or nebulized budesonide 2 mg has
if it is persistent, it can be an indication for surgical a benecial effect in croup. This should be used if
drainage of the middle ear with grommet insertion. stridor is present. Humidiers and steam therapy are
A grommet is a hollow plastic tube that ventilates ineffective.
the middle ear and remains effective only while Nebulized adrenaline provides transient im-
patent. Ultimately it is extruded from the tympanic provement by constricting local blood vessels and

104
Lower respiratory tract infections 14

reducing swelling and oedema. It should be given cefuroxime. Intubation is not usually required for
only under close supervision in hospital where it longer than 48 hours.
can provide rapid, if transient, relief of airway
obstruction, allowing time for transfer to the inten-
sive therapy unit (ITU) and intubation in a child
with severe airways obstruction.
Do not examine the throat if epiglottitis
Diphtheria is suspected: complete airway
This potentially fatal and highly infectious disease obstruction might be provoked.
is caused by a toxin produced by Corynebacterium
diphtheriae. In the UK, this scourge of childhood has
been eliminated by an effective immunization pro-
gramme, but it remains endemic in some countries
LOWER RESPIRATORY
and imported cases occur.
TRACT INFECTIONS
Acute epiglottitis
A minority of infections involve the lower respira-
Acute bacterial epiglottitis is an uncommon life- tory tract, but these are more likely to be serious
threatening emergency caused by infection with than infections of the upper respiratory tract and are
Haemophilus inuenzae type B. It has become rare more common in infants. Causative agents include
since the introduction of Hib immunization. It is viruses and bacteria. They vary with the childs age
most common in children aged 16 years. and the site of infection. Infection can occur by
direct spread from airway epithelium or via the
Clinical features bloodstream.
The onset is rapid over a few hours with the develop- A number of well-dened clinical syndromes
ment of an intensely painful throat. The character- (determined by the predominant anatomical site of
istic picture is of an ill, toxic, febrile child who is inammation) are recognized (e.g. bronchiolitis
unable to speak or swallow, with a mufed voice and pneumonia) and often provide a clue to the
and soft inspiratory stridor. The child tends to sit likely pathogen. The term chest infection should be
upright with an open mouth to maximize the airway, avoided. The hallmarks of a lower respiratory tract
and might drool saliva. infection are apparent on inspection (Fig. 14.1).

Management Pneumonia
It is vital to distinguish this illness from viral croup Pneumonia is characterized by inammation of the
because the management is different: lung parenchyma with consolidation of alveoli. It
can be caused by a wide range of pathogens and
Minutes count if death is to be avoided. different organisms affect different age groups
Urgent hospital admission should be arranged. (Fig. 14.2).
No attempt should be made to lie the child
down, to examine the throat with a spatula or Clinical features
to take blood, as these manoeuvres can
Usually, following an URTI the patient develops
precipitate total airway obstruction and death.
worsening fever, cough and breathlessness. Tachy-
Examination under anaesthetic should be arranged pnoea is a key sign. The classic signs of consolida-
without delay (preferably in the presence of a senior tion (dullness to percussion, decreased breath
anaesthetist, paediatrician and ENT surgeon) to sounds and bronchial breathing) might be present
allow conrmation of the diagnosis, followed by but they are difcult to detect in infants; crackles
intubation. Once the airway is secured, blood should might also be present. In bacterial pneumonia,
be taken for culture and intravenous antibiotics pleural inammation causing chest (or abdominal
started using a third-generation cephalosporin, e.g. pain) and an effusion more commonly develops.

105
Disorders of the respiratory system

Fig. 14.1 Signs of lower respiratory


tract infection in the infant.

Nasal flaring

Tracheal tug Cyanosis

Recession:
Intercostal and
subcostal

Crepitations or
wheeze

Tachypnoea

It is often difcult to distinguish between viral


Pathogens causing pneumonia in infants and children
and bacterial infections clinically. Young children
Age Pathogens
and babies are not good providers of sputum and
denitive diagnosis of bacterial infection remains
Neonates (<1 month) Group B streptococci difcult. However, the following all suggest bacte-
E. coli
Chlamydia trachomatis rial pneumonia:
Infants Respiratory viruses, e.g. RSV, Polymorphonuclear leucocytosis.
adenovirus Lobar consolidation (Fig. 14.3).
Streptococcus pneumoniae
Haemophilus influenzae Pleural effusion.
Bordetella pertussis
Mycoplasma infection can be diagnosed reliably by
Children Streptococcus pneumoniae acute and convalescent serology or by demonstra-
Haemophilus influenzae
Group A streptococci tion of cold agglutinins.
Mycoplasma pneumonia
Management
Fig. 14.2 Pathogens causing pneumonia in infants and
children. Antibiotics are usually given if a diagnosis of bacte-
rial pneumonia is made, the choice is dictated by
the childs age and the severity of illness (e.g. toxic
or requires O2):
Diagnosis
Penicillin is rst line in most children.
Diagnosis is largely clinical but a chest X-ray (CXR)
Cefuroxime and ucloxacillin is indicated in
is indicated if severe or complications suspected. A
severe illness.
full blood count (FBC), C-reactive protein, blood
If mycoplasma is suspected, a macrolide
culture and nasopharyngeal aspirate for viral isola-
antibiotic should be given.
tion and PCR should be carried out in hospitalized
children. Blood cultures positive in just 10% of Rarely, pneumonia can be complicated by empyema,
cases; addition of NPA for culture and PCR increase this should be evaluated by ultrasound and initially
yield of causative organisms up to 30%. needs drainage via a small bore chest drain or if

106
Lower respiratory tract infections 14

Bronchiolitis is a common and severe


infection in infants in the winter
months.
Oxygen is the most important part of
management of bronchiolitis. Little evidence
exists for drug or nebulized therapy.

Clinical features
Coryzal symptoms are followed by a cough with
increasing breathlessness and associated difculty in
breathing. Small infants might develop apnoeic epi-
sodes. Ex-preterm infants with chronic lung disease
and infants with congenital heart disease are at par-
Fig. 14.3 CXR of lobar pneumonia. Consolidation is seen in ticular risk of being severely affected. Examination
the lower left lobe obscuring the left hemidiaphragm. reveals:
Tachypnoea.
Subcostal and intercostal recession.
Chest hyperination.
Bilateral ne crackles.
Wheeze on auscultation.
Infants at high risk of developing severe disease
complicated by apnoeic episodes or respiratory
failure include:
Preterm infants.
Infants under 6 weeks of age.
Infants with chronic lung disease (e.g. cystic
brosis, bronchopulmonary dysplasia).
Infants with congenital heart disease.
Fig. 14.4 CXR of an inhaled foreign object. Nail seen in the
right intermediate bronchus with distal collapse of right
middle and lower lobes.
Diagnosis
The CXR, if taken, usually shows hyperination of
necessary may require surgery. Recurrent or per- the lungs. The virus can be detected by immuno-
sistent pneumonia should raise the possibility of an uorescence and cultured on a nasopharyngeal
inhaled foreign object (Fig. 14.4), or congenital aspirate.
abnormality of the lung, cystic brosis or
tuberculosis. Management
Management is supportive with attention to treating
Bronchiolitis hypoxia and maintaining hydration (Fig. 14.5).
This common condition is caused by a viral infec- Breathing (apnoea monitor), heart rate and oxygen
tion mainly RSV. Annual winter epidemics occur saturation (pulse oximeter) are monitored. Oxygen
in babies aged 19 months and many will be is the mainstay of treatment and is given via
hospitalized. The infection causes an inammatory nasal cannulae or humidied via a head-box. Some
response, predominantly in the bronchioles, hence infants might be well enough to continue oral
the name. feeds but most require uids to be given either by

107
Disorders of the respiratory system

Management of bronchiolitis

Mild Feeding well Whooping cough is most dangerous


Respiratory rate <40/min
Minimal intercostal recession to very young infants.
SpO2 >92% in air Vaccination is given early to confer
Manage at homeregular review
protection on this vulnerable group.
Moderate Difficulty feeding
Moderate tachypnoearate >40/min
Marked intercostal recession
SpO2 <92% in air Clinical features
Admit to hospital
O2 via nasal cannulae or head box The clinical course can be divided into catarrhal,
Fluids intravenously or nasogastrically
paroxysmal and convalescent stages.
Severe Tachypnoearate >60/min During a paroxysm of coughing (which are often
Recurrent apnoea
Severe recession
worse at night) the child might go blue and vomit.
Hypoxia in airsaturation <92% The inspiratory whoop can be absent in infants.
Admit to ICU or high-dependency area Nosebleeds and subconjunctival haemorrhage can
High inspired O2
Intubation and assistive ventilation for occur after vigorous coughing. Symptoms can persist
Respiratory failure or recurrent for 3 months (the 100-day cough).
severe apnoea
IV fluids
Complications
Fig. 14.5 Management of bronchiolitis. Complications, including pneumonia, convulsions,
apnoea, bronchiectasis and death, are more common
nasogastric tube or intravenously. A minority of
in infants under 6 months of age.
hospitalized infants require assisted ventilation
(only 12%). Secondary bacterial infection might
Diagnosis
occur (<1%), in which case antibiotic therapy is
appropriate. A marked lymphocytosis (>15.0 109/L) is charac-
For high-risk infants, a monoclonal antibody teristic and the organism can be cultured from a
(Palivizumab) can be given in the winter months to pernasal swab or PCR early in the disease.
reduce severity.
Treatment
Complications Erythromycin given early in the disease eradicates
Although most infants make a full recovery within the organism and reduces infectivity but does not
2 weeks, someespecially those hospitalizedhave shorten the duration of the disease.
recurrent episodes of cough and wheeze over the
subsequent few years. It is known that a subset of
these infants will develop asthma. ASTHMA

Whooping cough (pertussis) Asthma is a chronic inammatory disorder of the


airways associated with widespread variable airow
Whooping cough or pertussis is a highly contagious
obstruction and an increase in airways resistance in
clinical syndrome caused by a number of pathogens,
response to a variety of stimuli. The symptoms are
most commonly Bordetella pertussis. It is endemic,
reversible spontaneously or with treatment.
with epidemics occurring every 4 years. An effective
Asthma is the most common chronic respiratory
vaccine exists and is a component of the routine
disorder of childhood with a prevalence of 15% in
triple vaccine containing diphtheria, tetanus and
the UK. It has increased in prevalence in the last
pertussis (DTP).
decade and is twice as common in boys as girls.
Whooping cough is spread by droplet infection
and has an incubation period of 710 days. A case
is infectious from 7 days after exposure to 3 weeks
Aetiology
after the onset of the paroxysmal cough. Asthma is associated with a number of risk factors.

108
Asthma 14

Family history or co-existent atopy. Diagnosis


Male sex.
Parental smoking. A working practical denition is a child with recur-
Hospitalized for bronchiolitis in infancy. rent cough and wheeze in a clinical setting where
Preterm birth. asthma is likely (e.g. atopy, family history of asthma)
and in whom otherrarercauses (e.g. suppurative
lung disease) have been excluded.
Pathophysiology In most children, a careful history and examina-
tion should distinguish those with asthma. Evidence
The pathophysiology of airway narrowing in asthma
of bronchial hypereactivity by pulmonary function
includes chronic inammation of the bronchial
testing is difcult in young children, although chil-
mucosa associated with mucosal oedema, secre-
dren over 7 years might be able to perform spirom-
tions, and the constriction of airway smooth muscle
etry, which can support a diagnosis of asthma. In
(Fig. 14.6).
younger children a response to treatment with recur-
In children there are many different patterns of
rence of symptoms on discontinuing treatment sup-
asthma. In the infant age group there are many
ports the diagnosis.
infants that have recurrent wheeze due to having
Conditions that need to be distinguished from
underlying small airways, their symptoms improv-
asthma are shown in Fig. 14.7.
ing as the airway grows. There is an association of
small airways with exposure to antenatal smoking.
These infants may not have the typical inamma-
History
tory changes we associate with asthma and often Enquiry should be made concerning the pattern of
wheeze just with viral infections. symptoms (episodic or persistent), a family history

Fig. 14.6 Factors in the pathogenesis


of asthma.
Genetic predisposition Environmental factors

Bronchial inflammation

Trigger factors:
Bronchial hyper-reactivity Smoking (active & passive)
Temperature change in
environment

URTIs
Allergens
Mucosal oedema Exercise
Mucosal secretions Emotion
Bronchoconstriction

Airway narrowing

Symptoms

109
Disorders of the respiratory system

of asthma, trigger factors and those features that Investigations


allow the clinical evaluation of severity (exercise
tolerance, night-time disturbance, school absence). A plain CXR can be useful at initial presentation. In
A full history should cover the differential diagnosis, children aged over 5 years, the peak expiratory ow
e.g. growth, infections, gastrointestinal symptoms. rate (PEFR) can aid diagnosis if the child can carry
There are distinct patterns of asthma in child- this out reliably. Signicant diurnal variability or
hood (Fig. 14.8). decrease after exercise suggests bronchial hyperreac-
tivity. Spirometry in older children might demon-
Examination strate reversible airways obstruction. However, in
the majority of children a diagnosis is made without
Auscultation of the chest is usually normal between lung function testing because this is too difcult
attacks. Chronic, severe asthma is associated with to measure in young children; instead, an assess-
thoracic deformity: ment of the childs response to a treatment is
Hyperexpansion. performed.
Pigeon chest (pectus carinatum). Allergy tests might indicate evidence of atopy,
Harrison sulcus. which is associated with asthma, but 50% of asth-
matics are non-atopic.

Differential diagnosis of asthma


Differential diagnosis
Clues The differential diagnosis includes several impor-
Cystic fibrosis Failure to thrive, productive tant acute and chronic conditions. It must be
cough and finger clubbing remembered that all that wheezes is not asthma.
Gastro-oesophageal reflux Excessive vomiting Alternative diagnoses are listed in Fig. 14.7.

Central airways disease Inspiratory stridor with wheeze

Laryngeal problems Abnormal voice


Management
Inhaled foreign body Sudden onset
The aim of asthma treatment is to control symptoms
and prevent exacerbations, optimize lung function
Postviral wheeze Recent respiratory infection in 2 and keep the side-effects of medication to a
years age
minimum. Important ways of achieving these goals
Fig. 14.7 Differential diagnosis of asthma. are:

Asthma: patterns

Pattern Infrequent episodic Frequent episodic Persistent episodic

Proportion affected Most common: 75% 20% 5%


of all asthmatics

Clinical features Triggered by viral URTIs Exacerbations more severe but Daily symptoms and use of
Normal lung function and mild interval symptoms, especially bronchodilators
examination exercise induced Abnormal lung function
Abnormal lung function when
symptomatic

Management Treat with intermittent Treat with inhaled steroids add Treat with inhaled steroid with
step bronchodilators and short on therapy add on therapy
course of oral steroids for Step 23 Need specialist advice (Step 45)
severe exacerbations
Step I

Prognosis 40% will remain 70% remain symptomatic in 90% remain symptomatic in
symptomatic in adulthood adulthood adulthood

Fig. 14.8 Asthma: patterns.

110
Asthma 14

An education and management plan for child prednisolone might be needed at any step (under 1
and carers (The Asthma UK is a useful source of year old: 12 mg/kg/day; 15 years: 20 mg/day;
information). maximum dose 40 mg/day). In children with marked
Establishing the minimal effective dose of seasonal variation in asthma severity, the treatment
preventer medication, especially steroids. should be varied according to the season.
An age-appropriate delivery device. Inhalation therapy is central to most asthma
Accurate diagnosis and assessment of severity, treatment. The basic systems available are consid-
with regular review. ered in Figs 14.10 and 14.11.
Avoiding triggers. The mode of action, indications for use and side
effects of the most commonly used bronchodilator
drugs are outlined in Fig. 14.12.

Steroid therapy in asthma


There is a colour code for asthma drug
Glucocorticoids are key drugs in the management of
inhaler devices:
asthma, both in prophylaxis and the treatment of
Preventers are mostly brown, e.g.
acute attacks. They can be given:
inhaled steroid. Other colours are purple, red,
green and orange. By inhalation.
Relievers are blue, e.g. inhaled salbutamol. Orally.
Intravenously: in acute asthma.

Triggers of asthma
Although the evidence for allergy avoidance is poor,
skin-prick testing or specic IgE might identify aller- Which inhaler device for which patient?
gens and a trial of avoidance may be indicated MDI: suitable only for competent
older children (breath-activated MDIs
are available and do not require such a high level
of coordination).
Parents and the child must be MDI and spacer: benecial in all children and as
advised to avoid exposures effective as nebulizers if used correctly.
that might worsen the DPI: children from age 5 years.
asthma. Simple measures
include frequent vacuuming, damp dusting and
foam lling for duvets and pillows to remove house
Stepwise management of chronic asthma in children
dust mite, removing pets from home and
discouraging parental smoking inside the house. Step 1 All asthmatic children should have
Food allergy is uncommon as a trigger in asthma. an inhaled 2 bronchodilator

Step 2 If requiring 23 times Add low-dose inhaled steroids


daily inhaled 2 agonists

Medication Step 3 Try adding on long-acting


agonists or leukotriene receptor
The drugs used in the management of asthma in antagonists before increasing
steroid dose
children can be classied into preventers and
relievers. Step 4 If increasing steroid Consider:
A stepwise approach to treatment has been dose ineffective Leukotriene receptor antagonists
Oral theophylline
devised (British Guidelines for Asthma Manage- High-dose inhaled steroids
ment) and is summarized in Fig. 14.9. Patients
Step 5 Alternate day oral steroids
should start treatment at the step most appropriate
to the initial severity. Once control is achieved, treat- Fig. 14.9 Stepwise management of chronic asthma in
ment can be stepped down. A rescue course of oral children.

111
Fig. 14.10 Administration of
medication by inhalation. Administration of medication by inhalation

Advantages Disadvantages

Metered dose inhaler Coordination not required Bulky


with spacer Usable at all ages

Dry powder inhaler Coordination unimportant Requires rapid inspiration


(DPI) Small and portable Unsuitable for children <5 years
Easy to operate

Nebulizer Coordination unimportant Expensive, noisy, cumbersome


Usable at all ages Treatment takes a long time, >5 min
Effective in severe attack Frightens some infants

MDI + spacer Face mask or +/


mouthpiece
Face mask or
mouthpiece

Valve

Compressor

DPI
DPI
Nebulizer

Air line

Accuhaler Turbohaler

Fig. 14.11 Inhaler devices.

Asthma drug therapy: mode of action, indications, and side effects of bronchodilators

Relievers (bronchodilators) Mode of action Use Side effects

Short-acting 2 agonists, Smooth muscle relaxation Relief of bronchospasm Tachycardia


e.g. salbutamol, terbutaline Hypokalaemia
Restlessness

Long-acting 2 agonists, Smooth muscle relaxation Nocturnal asthma, exercise-induced asthma


e.g. salmeterol Trial alternative to high-dose inhaled steroids

Theophylline Phosphodiesterase Oral theophylline for nocturnal asthma Restlessness


inhibition IV aminophylline in acute severe asthma Diuresis
Cardiac arrhythmias

Anticholinergics, e.g. Inhibit cholinergic First-line bronchodilator in infants Dry mouth


ipratropium bromide bronchoconstriction; Urinary retention
add on to 2 agonists in
acute attack

Fig. 14.12 Asthma drug therapy: mode of action, indications and side effects of bronchodilators.

112
Asthma 14

Inhaled steroids Theophylline


Inhaled steroids are now the preventers of choice This oral drug can be used in difcult to treat asthma
in the management of childhood asthma. The lowest but its use is limited by side effects.
dose that achieves control should be used. They are
Oral steroids
indicated in frequent interval symptoms, nocturnal
Prednisolone as a single daily dose is the drug of
asthma, poor lung function tests and if using bron-
choice. Short courses (3 days) are indicated for acute
chodilator more than 3 times a week as rescue treat-
exacerbations. Regular oral steroids are indicated
ment. Inhaled steroids:
only for the most severe asthma that cannot be con-
Inhibit synthesis of inammatory mediators trolled with high-dose inhaled steroids and regular
(cytokines, leukotrienes and prostaglandins). bronchodilators. Alternative day dosage is preferred
Reduce airway hyperresponsiveness. to reduce systemic side effects.
Reduce both the symptoms and frequency of
attacks. Acute severe asthma
Prevent irreversible airway narrowing. This is considered in more detail in Chapter 26.
Local side effects, such as oral thrush or dysphonia, Features of acute severe asthma include:
are uncommon. Ninety per cent of the dose is Respiratory rate >50 breaths/min.
deposited in the mouth and pharynx, but this can Pulse >140 beats/min.
be reduced by the use of a spacer (with metered- Use of accessory muscles.
dose inhalers; MDIs) and mouth washing (with dry Too breathless to talk.
powder inhalers; DPIs). High doses (>800 g) are
associated with decreased growth and adrenal sup- Life-threatening features include:
pression, and children taking inhaled steroids must Cyanosis.
have their height monitored closely. Silent chest (insufcient airow to generate
wheeze).
Exhaustion, poor respiratory effort.
Agitation, diminished consciousness (indicate
Parents and sometimes hypoxia).
children are anxious about the
adverse effects of long-term Immediate management
inhaled steroids. Since the
High-ow O2 via facemask.
dose is low and is targeted at the lungs, systemic
Salbutamol (2.55.0 mg) or terbutaline
absorption is less and therefore systemic adverse
(5.010.0 mg) via an oxygen-driven nebulizer.
effects are rare. While transient growth failure can
Prednisolone orally or IV hydrocortisone.
occur, there is good evidence that the nal height is
Pulse oximetry: O2 saturation <92% in air
not affected. In any case, asthma itself can lead to
indicates need for hospitalization.
growth failure, which is probably worse than that
due to steroids. Steroids can cause adrenal failure, If life-threatening features (or poor response):
but this is again rare unless high doses are used.
Intravenous aminophylline or intravenous
salbutamol.
Intravenous hydrocortisone.
Long-acting b2 agonists Add ipratropium bromide to nebulized
This class of inhaled drug can be used as an add-on 2-agonist.
therapy in children over 4 years if control is poor
with low-dose inhaled steroids. New combination Prognosis of asthma
inhaled steroid and long-acting 2 agonists are
Most children with asthma improve as they get older
available.
(Fig. 14.8). Prognosis is better with earlier age at
Leucotriene receptor antagonists diagnosis. Children with poor pulmonary function
This is a new class of oral drug and can be used as testing and frequent wheezy episodes are associated
an add-on therapy from 6 months. with recurrent wheeze in adulthood.

113
Disorders of the respiratory system

CYSTIC FIBROSIS

Incidence and aetiology


Cystic brosis (CF) is the most common lethal
genetic disease in Caucasian people. It has a carrier
rate of 1 : 25 and incidence of 1 : 2500 live births. CF
is an autosomal recessive disease arising from muta-
tions in a gene on chromosome 7 that encodes an
ATP-binding cassette (ABC) transporter, the cystic
brosis transmembrane regulator (CFTR) protein.
The most common mutation is a three base-pair
deletion that removes the phenylalanine at position
508 (F508). This is found in 90% of disease chro-
mosomes, but 1200 mutations have now been iden-
Fig. 14.13 Typical CXR of a child with cystic brosis,
tied so far. showing bilateral severe lung pathology: hyperinated lungs
The mutations in the CFTR result in defective with bronchial wall thickening.
chloride ion transport across epithelial cells and
increased viscosity of secretions, especially in the
respiratory tract and exocrine pancreas. This predis-
poses to recurrent chest infections and pancreatic neonatal period, in which inspissated meconium
insufciency. In addition, abnormal transport in causes internal obstruction.
sweat gland epithelium results in high concentra-
tions of sodium and chloride in sweat, which form Diagnosis
the basis of the most useful diagnostic test, the sweat The gold-standard diagnostic test is the sweat test,
test. using pilocarpine iontophoresis. Failure of the
normal reabsorption of sodium and chloride by the
Clinical features sweat duct epithelium leads to abnormally salty
sweat: chloride concentrations of 60125 mmol/L
Cystic brosis should be considered in any child are found (the normal value is <15 mmol/L). Two
with recurrent chest infection and failure to thrive. sweat tests showing a chloride of >60 mmol/L
Viscid mucus in the small airways predisposes to conrm CF.
infection with Staphylococcus aureus, Haemophilus A CF genotype using DNA analysis is also avail-
inuenzae and Pseudomonas species. Repeated infec- able for the more common mutations and can help
tion leads to bronchial wall damage with bronchi- conrm a diagnosis.
ectasis and abscess formation.
There is a cough productive of purulent sputum Management
and on examination there might be:
Cystic brosis is a multisystem disease (Fig. 14.14)
Hyperination. and management requires a multidisciplinary
Crepitations. approach, which is delivered most effectively by a
Wheeze. specialist centre. The main aims are to:
Finger clubbing. Prevent progression of lung disease.
Promote adequate nutrition and growth.
An example of typical chest X-ray changes is shown
in Fig. 14.13. A team approach is required, involving paediatri-
In most children, deciency of pancreatic enzymes cians with an interest in CF, physiotherapists, dieti-
(protease, amylase and lipase) results in malabsorp- cians, CF nurses, community nurses, the primary
tion, steatorrhoea and failure to thrive. Stools are care team and lastbut not leastthe childs parents
pale, greasy and offensive. About 10% of infants or carers. The Cystic Fibrosis Trust plays an extremely
with CF present with meconium ileus in the important role in supporting families.

114
Cystic brosis 14

Multisystem aspects of cystic fibrosis


Nutritional management
The combined threats of malabsorption due to pan-
Non-Pulmonary aspects of CF
creatic insufciency, poor appetite, increased metab-
Airway Nasal polyps olism due to chronic infection and increased
Gastrointestinal Distal ileal obstruction syndrome respiratory work render nutritional management of
Pancreas/endocrine Cystic fibrosis and diabetes vital importance in CF. The following supplements
Poor growth can be given:
Osteoporosis
A high-calorie diet with vitamin supplements,
Reproductive Infertility in males from absent vas
deferens especially fat-soluble vitamins A, D, E and K.
Oral high calorie diet alone may be inadequate
Joints Arthropathy
in many children and enteral feeding via a
Vascular Vasculitis gastrostomy is often needed in older patients.
Hepatic Portal hypertension
Pancreatic enzyme supplementation using
Psychological enteric-coated microspheres in gelatin-coated
capsules (e.g. Creon), which contain amylase,
Fig. 14.14 Multisystem aspects of cystic brosis.
lipase and protease. This usually has a marked
effect on steatorrhoea and allows catch-up
growth.

Prognosis
Cornerstones of CF treatment are: The median survival in the UK in the 1990s was 40
Aggressive treatment and prevention years, and this will hopefully improve further. Lung
of infection. transplantation for some patients is an option but
Effective mucociliary clearance. lack of donors mean its role is limited.
Nutritional support.
Exercise. Genetic screening
Isolation of the CF gene and identication of the
common mutations has made it technically possible
to screen newborns for CF. Newborn screening is
Respiratory management now UK wide using a method measuring immuno-
Physiotherapy (chest percussion with postural reactive trypsin (IRT), DNA analysis and, if needed,
drainage, breathing exercises, positive expiratory a second IRT. The aim of screening in CF is to pick
pressure (PEP) masks and utter devices) is the up children severely affected, limit identifying those
mainstay of respiratory management. Many centres mildly affected and avoid picking up carriers. Early
recommend continuous prophylactic antibiotics treatment benets the prognosis of CF patients and
with oral ucloxacillin in the rst 2 years of life aids reproductive decision making for the parents.
and, if children are colonized with Pseudomonas,
antipseudomonal nebulized antibiotics. Acute exac-
erbations require vigorous treatment, with oral or
if needed IV antibiotics directed against the The CFTR protein:
common bacterial pathogens (Haemophilus inuen- Acts as a cAMP-dependent chloride
zae, Staphylococcus aureus and Pseudomonas aerugi- channel in the apical membranes of
nosa) and guided by recent sputum culture results epithelial cells.
if available. Use of indwelling vascular devices Is composed of 1480 amino acid residues.
(e.g. Port-A-Cath) aid regular intravenous antibiotic Contains functional domains including
courses. membrane-spanning regions, ATP-binding
Mucolytics such as nebulized DNase or hyper- domains, and a regulatory domain.
tonic saline to reduce sputum viscosity can help Is an ATP-binding cassette (ABC) transporter.
mucociliary clearance.

115
Disorders of the respiratory system

Further reading
British Guideline on the Management Of Asthma. Thorax
Mutations in the CFTR gene: 2003; 58:Suppl 1.
British Thoracic Guideline on Childhood Community
The F508 mutation is found on
Acquired Pneumonia. Thorax 2002; 57:124.
90% of CF chromosomes in the UK. Cystic Fibrosis UK Screening programme: www.ich.ucl.
A three base-pair deletion causes the loss of the uk/newborn/cf/index/htm
phenylalanine (F) at residue number 508. King VJ et al. Pharmacologic treatment of bronchiolitis in
1200 mutations have now been reported in the infants and children: a systematic review. Archives of
CFTR gene, but few of these occur at a Pediatric and Adolescent Medicine 2004; 158:127137.
worldwide frequency of more than 1%. Spencer H, Jaffe A. Newer therapies for cystic brosis.
Current Paediatrics 2003; 13:259263.

116
Disorders of the 15
gastrointestinal system
Objectives

At the end of this chapter, you should be able to


Identify the common causes of vomiting in children.
Recognize dehydration in a child with diarrhoeal illness and calculate the uid
requirements.
Understand some of the common surgical conditions involving the gastrointestinal
tract.
Understand the pathology and clinical features of inammatory bowel disease.

Both medical and surgical disorders of the gastroin-


testinal tract are common in paediatric practice. At
least 5 million young children die each year from
Inconsolable crying in an infant,
diarrhoeal diseases.
consider:
The range of pathological processes affecting the
Colic.
gastrointestinal tract is broad. It includes:
Otitis media.
Congenital abnormalities. Incarcerated hernia.
Infection. Urinary tract infection.
Immune-mediated allergy or Anal ssure.
inammation. Intussusception.

INFANTILE COLIC Treatment and prognosis


This is a common syndrome characterized by recur- The condition is benign and has a good prognosis,
rent inconsolable crying or screaming accompanied although it might provoke non-accidental injury in
by drawing up of the legs during the rst few months infants at risk. Sympathetic counselling is impor-
of life, usually beginning around 2 weeks and resolv- tant. There is no evidence that any medical interven-
ing by 4 months of age. It can occur several times a tion is effective.
day, particularly in the evening.

GASTRO-OESOPHAGEAL REFLUX
Diagnosis
The differential diagnosis of inconsolable screaming The involuntary passage of gastric contents into the
includes some important conditions. Occasionally oesophagus is a common problem, especially in
colic may be due to cows milk protein intolerance babies during the rst year of life. Functional imma-
or gastro-oesophageal reux. turity of the lower oesophageal sphincter, liquid

117
Disorders of the gastrointestinal system

milk rather than solid feeds and a supine posture position after feeds can help. More troublesome
are all contributory factors. It is a physiological reux might respond to an alginate and antacid
nding in infancy. combination (e.g. Gaviscon Infant) or thickening
the feed with inert carob-based agents.
Clinical features The following drugs can be used in more severe
reux:
Symptoms are usually mild (regurgitation/posset-
ing) and no treatment is required. In a minority, Prokinetic drugs such as domperidone: these
however, symptoms are severe and complications speed gastric emptying and increase lower
such as failure to thrive, oesophagitis or recurrent oesophageal sphincter pressure.
aspiration pneumonia might occur. Drugs to reduce gastric acid secretion
Infants at risk of severe gastro-oesophageal reux (H2 antagonists or proton pump
include: inhibitors): especially if there is evidence of
oesophagitis.
Preterm infants: especially those with chronic
lung disease (bronchopulmonary dysplasia). Surgery is required for very severe cases with com-
Children with cerebral palsy. plications. The most commonly used procedure is
Infants with congenital oesophageal anomalies, Nissen fundoplication in which the fundus of the
e.g. after repair of a tracheo-oesophageal stula. stomach is wrapped around the lower oesophagus.
This is commonly combined with a gastrostomy for
The main symptom is recurrent regurgitation or
feeding.
vomiting. About 10% of infants with symptomatic
reux develop complications. Oesophagitis might
be manifested by:
GASTROENTERITIS
Irritability.
Features of pain after feeding. Gastroenteritis is an infection of the gastrointestinal
Blood in the vomit. tract, usually viral, which presents with a combina-
Iron-deciency anaemia. tion of diarrhoea and vomiting (D&V).
Reux can cause recurrent aspiration pneumonia,
failure to thrive, cough, bronchospasm (with wheez- Incidence and aetiology
ing) and exacerbation of chronic lung conditions In developed countries it is usually mild and self-
such as cystic brosis or bronchopulmonary limiting (affecting 1 in 10 children under the age of
dysplasia. 2 years) but in the developing world approximately
5 million children under 5 years old die from gas-
Diagnosis troenteritis each year.
Rotavirus is the most common pathogen in the
Most reux can be diagnosed clinically but several
UK but gastroenteritis can also be caused by:
techniques are available for conrming the diagno-
sis and assessing the severity: Bacteria, including Shigellae, Salmonellae and
Campylobacter species and Escherichia coli.
24-hour ambulatory oesophageal pH
Three parasites: Entamoeba histolytica, Giardia
monitoring: gold standard in older children but
lamblia and Cryptosporidium species.
less useful in infants and neonates.
Barium studies: might be required to exclude
underlying anatomical abnormalities.
Clinical features
Endoscopy: indicated in patients with suspected Viral infection can cause a prodromal illness fol-
oesophagitis. lowed by vomiting and diarrhoea:
Nuclear medicine milk scan.
The vomiting might precede diarrhoea and is
In the majority of mildly affected infants, reassur- not usually stained with bile or blood.
ance and the early introduction of solids at 3 months Abdominal pain and blood or mucus in
are all that is required and 95% will resolve by the the stool suggests an invasive bacterial
age of 18 months. Nursing the baby in a 30 prone pathogen.

118
Gastroenteritis 15

Fig. 15.1 Clinical features of


Moderate (5% weight loss) Mild dehydration.
Sunken eyes and fontanelle Dry mucous membranes
Decreased skin turgor Fewer wet nappies

Severe (10% weight loss)


Tachycardia
Low BP, cool periphery

The severity of diarrhoea can be underestimated


if it pools in the large bowel or if very watery
stool is mistaken for urine in the nappy.
Gastroenteritis, by denition, includes
On examination, the most important physical signs diarrhoea. It is important to look for
relate to the presence and severity of dehydration other causes when a child presents with
(Fig. 15.1). The high surface area to bodyweight vomiting alone.
ratio in babies and infants renders them susceptible
to rapid derangement of uid and electrolyte
balance. Dehydration can be further classied according to
whether the plasma sodium concentration is nor-
Diagnosis mal, low (hyponatraemia) or high (hypernatrae-
The differential diagnosis includes at least two mia). This has a bearing on the uids used for
important surgical conditions: rehydration (see below).

In young infants, especially boys (aged 212


Management
weeks), vomiting might be due to pyloric
stenosis. Stool output is reduced and visible Rehydration
peristalsis with a palpable pyloric mass might The key to management is rehydration with correc-
be evident. tion of the uid and electrolyte imbalance. The strat-
In older infants and toddlers (aged 12 years) egy depends on the severity of dehydration.
intussusception presents with vomiting.
Paroxysmal abdominal pain and the eventual
passage of redcurrant jelly stools should raise
suspicion of this condition, which is lethal if
overlooked. It is important to emphasize the
importance of oral rehydration. Unless
Investigations should include:
the child has persistent vomiting, oral
Measurement of the plasma urea and uids is the best means for rehydration. Smaller,
electrolytes if dehydrated. more frequent sips may be better tolerated and
Stool culture and microscopy. should be encouraged.
Stool viral antigen detection.

119
Disorders of the gastrointestinal system

Mild dehydration Medication


Oral rehydration solutions (ORS; e.g. Dioralyte, There is no role for antiemetic or antidiarrhoeal
Rehidrat) are used. These contain dextrose to stimu- medication in gastroenteritis. Antibiotics are rarely
late sodium and water reabsorption across the bowel indicated except for specic bacterial infections,
wall. such as invasive salmonellosis or severe Campylo-
bacter infection, and amoebiasis or giardiasis.
Moderate to severe dehydration
Oral rehydration is still indicated if tolerated. IV
rehydration should be reserved for those with vom- PYLORIC STENOSIS
iting or severe dehydration.
Pyloric stenosis is due to hypertrophy of the smooth
muscle of the pylorus and is an important cause of
vomiting in babies.

Early refeeding reduces duration of Incidence


diarrhoeal illness caused by
gastrointestinal infections. IV therapy is
Pyloric stenosis is ve times more common in boys
over-used.
and is familial with multifactorial inheritance.

If there are signs of circulatory failure, immediate


resuscitation is achieved by intravenous administra- The incidence of pyloric stenosis is 15
tion of 1020 mL/kg of 0.9% NaCl (normal saline). per 1000 live births:
Further rehydration can usually be achieved satisfac- It is more common in boys.
torily with 5% dextrose/0.45% saline with KCl It causes a metabolic alkalosis.
added at a concentration of 2040 mmol/L. Surgical treatment is by Ramstedts procedure.
The volume required in 24 hours is calculated
from estimated decit + maintenance + ongoing
losses: Clinical features
Decit Decit = % dehydration bodyweight in It presents with persistent, projectile non-bilious
kg (1 kg = 1000 mL). vomiting between 2 and 6 weeks of age (it does not
occur in the newborn or beyond 3 months of age).
Maintenance Allow:
The infant remains hungry and eager to feed after
100 mL/kg/24 h for 010 kg bodyweight. vomiting. Weight loss, constipation, mild jaundice
50 mL/kg/24 h for 1020 kg bodyweight. and dehydration develop after a few days (Fig.
20 mL/kg/24 h for >20 kg bodyweight. 15.2).
Ongoing losses
Estimate the volume of vomit and diarrhoea. Calcu-
Diagnosis
late the volume required as shown in the following Diagnosis is clinical and made by palpation of the
example of a child weighing 10 kg with estimated hypertrophied pylorus during a test feed. Peristaltic
10% dehydration: waves might be visible.
Ultrasound of the abdomen can conrm diag-
Decit = 10% of 10 kg = 1 kg = 1000 mL.
nosis, demonstrating the hypertrophied pylorus.
Maintenance in 24 h = 100 mL/kg = 1000 mL.
In addition, a characteristic electrolyte disturbance
Total required in 24 h = 2000 mL.
develops with a hypochloraemic metabolic alkalosis
1. Give IV 0.9% NaCl 20 mL/kg over (serum HCO3 elevated to 2535 mEq/L). This
30 min = 200 mL. is due to the loss of acidic gastric contents and
2. Give 1800 mL 4% dextrose/0.18% NaCl over the kidneys excreting hydrogen ions to maintain
24 h, i.e. IV infusion at 75 mL/h. potassium.

120
Intussusception 15

Fig. 15.2 Clinical features of pyloric


stenosis.

Worried expression

Projectile vomiting

Visible peristalsis

Palpable pyloric
mass during test feed

Constipation
Male:Female
5:1

Management Clinical features


Medical The classical presenting triad is:
Correction of uid and electrolyte abnormalities is Colicky abdominal pain.
vital. In the presence of severe dehydration, a uid Vomiting.
bolus is needed. For maintenance, a uid containing An abdominal mass.
adequate chloride (such as half normal saline with
The typical history is of episodes of screaming
5% dextrose) is used, which will gradually correct
during which the infant draws up the legs and
the hypochloremic alkalosis.
becomes pale. Vomiting occurs and the vomit might
be bile-stained. As the blood supply to the bowel
Surgical
becomes progressively compromised, the character-
The denitive treatment is the Ramstedts procedure, istic redcurrant jelly stool will be passed; this is a
in which the hypertrophied pyloric musculature is late sign.
divided.

INTUSSUSCEPTION
Suspect intussusception if there is:
Intussusception is a condition in which one segment
An infant aged 69 months.
of bowel telescopes into an adjacent distal part of
Paroxysmal colicky abdominal pain.
the bowel. It most commonly begins just proximal
Vomiting.
to the ileocaecal valve (ileum invaginates into
Redcurrant jelly stool.
caecum-ileocolic). The peak age is between 6 and 9
A sausage-shaped mass in right upper quadrant.
months, when the lead point is believed to be
Peyers patches that have been enlarged by a preced-
ing viral infection. An anatomical lead point, such
as a Meckels diverticulum or polyp, is more likely Examination might reveal a sausage-shaped
to be present in an older child. mass formed by the intussusceptum, which is usually

121
Disorders of the gastrointestinal system

palpable in the right upper quadrant. Signs of


intestinal obstruction and shock develop over
2448 hours. Ultrasound is the imaging modality
Atypical presentations with poorly
of choice.
localized pain are common in young
children (<5 years) or when the inamed
Management appendix is retrocaecal or pelvic.
Intussusception is a life-threatening condition and
can easily be misdiagnosed as gastroenteritis or colic
by the unwary. If suspected, an immediate diagnos- Anorexia is usual and often associated with
tic enema using air or contrast material (barium or nausea and vomiting. Constipation might be a
gastrografn) should be carried out. feature. Clinical signs include:
In most cases, reduction by air enema is possible,
Mild fever.
however if this is unsuccessful, operative reduction
Tachycardia.
is necessary.
Dehydration.
Enema and attempts at hydrostatic reduction are
RIF tenderness.
contraindicated if the history is long (2448 hours)
Guarding in a toxic child.
or if there are signs of intestinal obstruction, perito-
nitis, or shock. The differential diagnosis is shown in Fig. 15.3.

Diagnosis
MECKELS DIVERTICULUM The diagnosis is usually made clinically. If there is
diagnostic uncertainty, useful investigations
This remnant of the fetal vitello-intestinal duct include:
occurs in 2% of the population. It is usually 2
Urine: microscopy and culture.
inches (5 cm) long and found 2 feet (60 cm) proxi-
Full blood count (FBC).
mal to the ileocaecal valve (the rule of 2s). It con-
Chest X-ray (CXR): pneumonia can mimic
tains ectopic gastric mucosa. Diagnosis is by a
appendicitis.
technetium scan. The majority are asymptomatic
Abdominal ultrasound.
but the most typical presentation is painless, severe
rectal bleeding due to peptic ulceration. Treatment
is surgical.
Management
A short period of observation can be undertaken
before appendicectomy when there is uncertainty,
ACUTE APPENDICITIS although progression to peritonitis can occur within
a few hours in young children.
This important cause of acute abdominal pain
occurs when the appendix becomes obstructed
(usually by a faecolith) or inamed by lymphatic The differential diagnosis of acute abdominal pain
hyperplasia. It occurs at any age, although it is rare
in infants when the lumen of the appendix is wider Surgical Medical
and well drained. Appendicitis Mesenteric adenitis
Intussusception Gastroenteritis
Volvulus Constipation
Clinical features Meckels diverticulum UTI
Strangulated hernia Lower lobe pneumonia
The classic symptoms are a central abdominal pain Ovarian torsion Diabetic ketoacidosis
that moves to the right iliac fossa (RIF) over a period HenochSchnlein purpura
Sickle cell crisis
of hours. The pain is of increasing severity and
aggravated by movement (as the peritoneum is
exquisitely pain sensitive). Fig. 15.3 The differential diagnosis of acute abdominal pain.

122
Food intolerance 15

Other complications include septicaemia, appen- Poor weight gain.


dix abscess and appendix mass. An abscess requires Abdominal distension.
surgical drainage. Conservative management is Buttock wasting.
given for an appendix mass with elective appendec-
tomy carried out 6 weeks later. The majority of cases present with more subtle prob-
lems such as:

MESENTERIC ADENITIS Diarrhoea.


Transient poor weight gain.
This non-specic inammation of mesenteric Irritability.
lymph nodes is thought to provoke a peritoneal Growth failure.
reaction causing acute abdominal pain that mimics Ataxia.
appendicitis. Anaemia due to iron or folate deciency: this is
the most common symptom.
Clinical features
It occurs commonly in children and is often Diagnosis
associated with other systemic symptoms and signs
including fever, headache, pharyngitis and cervical Specic IgA antigliadin or antiendomysial antibod-
lymphadenopathy. It is likely to be viral in origin. ies are useful as a screening test. Denitive diagnosis
requires the demonstration of a at mucosa on
Diagnosis and management jejunal biopsy followed by clinical improvement on
dietary gluten withdrawal. A third biopsy on gluten
Observation in hospital is often required due to the challenge should be then taken to conrm the
difcult diagnosis. Management is conservative, as diagnosis.
the symptoms are self-limiting, although persisting
right iliac fossa tenderness warrants surgical explora-
tion to identify appendicitis. Management
A diet free of gluten-containing products should be
adhered to for life. Dietary supervision is required.
COELIAC DISEASE Manufacturers use a special sign on packaging to
indicate that food is gluten free.
Incidence and aetiology Coeliac disease is associated with a variety of
autoimmune disorders, including thyroid disease
Coeliac disease arises from malabsorption caused
and pernicious anaemia, and the risk of small bowel
by gluten-mediated immunological damage to the
malignancy (especially lymphoma) is increased 20-
mucosa of the proximal small intestine with subse-
fold. A strict gluten-free diet might protect against
quent atrophy of the villi and loss of the absorptive
this risk of malignancy and decrease the risk of auto-
surface. The incidence varies between 1 in 250 and
immune disease.
1 in 4000 live births, and appears to be increasing
in some areas of the world.
There is a familial predisposition with 10% of
rst-degree relatives affected. There appear to be
FOOD INTOLERANCE
associations with HLA DQ2.
Adverse reactions to specic foods or food ingre-
Clinical features dients are not uncommon and can be transitory or
A few children present with failure to thrive follow- permanent. The majority are immune-mediated
ing weaning when gluten-containing foods are reactions, usually to proteins, and are properly
introduced to the diet. Malabsorption of fat (steator- referred to as food allergies. However, non-immune-
rhoea) occurs rst, with bulky, light-coloured, offen- mediated intolerance also occurs, e.g. lactose intol-
sive stools. On examination, there is: erance due to intestinal disaccharidase deciency.

123
Disorders of the gastrointestinal system

Transient dietary Lactose intolerance


protein intolerances Lactose is the predominant disaccharide in milk
These are more common in infants with a strong and requires the intestinal brush-border enzyme
family history of atopy or IgA deciency. They are lactase for its digestion. Lactase deciency is most
most commonly manifested by protracted diarrhoea commonly encountered as a secondary and tran-
with or without vomiting and failure to thrive. sient phenomenon after gastroenteritis. Congenital
However, allergy to specic proteins might also play lactase deciency is rare; hereditary late-onset lactose
a role in eczema and migraine and, occasionally, can intolerance is predominantly seen in Afro-Carribean
cause acute anaphylaxis. and oriental people.
Intolerance to the following foods has been
described: Clinical features
Accumulation of intestinal sugar results in watery
Cows milk.
diarrhoea and bacterial production of organic acids,
Soya.
which lowers stool pH and causes excoriation of the
Wheat.
perianal region.
Fish, egg, chicken and rice.
Nuts.
Diagnosis
Diagnosis Lactose is a reducing sugar and may therefore be
detected in the stool by the Clinitest method.
Diagnosis is made when the symptoms are relieved
by removal of specic foods or food constituents,
and recur on reintroduction.
Treatment
Treatment is with a diet free of products containing
Management lactose and milk.
Cows milk protein intolerance, if severe, can cause
a protein-losing enteropathy and blood loss. It is
best managed with a casein-hydrolysate-based INFLAMMATORY
formula as up to 30% of infants will also be, or will BOWEL DISEASE
become, intolerant to soya. Most patients grow out
of their intolerance by the age of 2 years, which is Up to one-quarter of cases of inammatory bowel
therefore an appropriate time to conduct a dietary disease have their onset during childhood or ado-
challenge. lescence (Fig. 15.4).

Comparison of Crohns disease with ulcerative colitis

Feature Crohns disease Ulcerative colitis

Colonic disease 5075% 100%


Transmural involvement Common Unusual
Skip lesions Common Not present
Rectal bleeding Sometimes Common
Abdominal pain Common Variable
Abdominal mass Common Not present
Growth failure Common Variable
Perianal disease Occasional Unusual
Mouth ulceration Common Unusual
Toxic megacolon Not present Present

Fig. 15.4 Comparison of Crohns disease with ulcerative colitis.

124
Bile duct obstruction 15

Crohns disease of bowel extending from the anus to the colon.


The aganglionic segment is narrow and contracted.
Crohns disease, or regional enteritis, is a transmural It ends proximally in a normally innervated and
and focal inammatory process that can affect any dilated colon. It is more common in males.
portion of the gastrointestinal tract from the mouth
to the anus; the distal ileum or the colon are most Clinical features
frequently involved. The cause is unknown, although
there is a clear genetic predisposition. Affected intes- Infants with the disease usually present in the neo-
tine is thickened and non-caseating epithelioid cell natal period with:
granulomata are found on histology. Delayed passage of meconium (>48 h of life).
Subsequent intestinal obstruction with bilious
Ulcerative colitis vomiting and abdominal distension.
Ulcerative colitis is a chronic, recurrent inamma- Enterocolitis is a severe, life-threatening compli-
tory disease involving the mucous membrane of the cation.
colon. The disease process is restricted to the mucosa Older children present with:
and begins in the rectum, extending proximally.
Chronic, severe constipation present from birth.
Clinical features of inammatory Abdominal distension.
An absence of faeces in the narrow rectum.
bowel disease
It presents with: Diagnosis and management
Cramping lower abdominal pain. An unprepped barium enema might demonstrate a
Bloody diarrhoea. transition zone where the bowel lumen changes in
Weight loss/failure to thrive. diameter. Conrmation of the diagnosis is made by
demonstrating the absence of ganglion cells on a
Extra intestinal features might be present, including
suction biopsy of the rectum. Surgical resection of
growth retardation, delayed puberty, arthritis, spon-
the involved colon is required. An initial colostomy
dylitis and erythema nodosum.
is usually followed by a denitive pull-through pro-
cedure to anastomose normally innervated bowel to
Management the anus.
Crohns disease is managed initially by dietary
measures with steroids for active relapse. Elemental
diets are as effective as steroids but without the side BILE DUCT OBSTRUCTION
effects. Immunosuppressives are the next line and
new therapies such as anti-TNF antibodies are under Obstruction of bile ow due to biliary atresia or a
evaluation. Surgery remains an option for failure of choledochal cyst are rare, but treatable, causes of
medical treatment. persistent neonatal jaundice. Early recognition and
Ulcerative colitis is treated with the aminosalicy- diagnosis of these liver diseases is important.
lates with steroids reserved for active disease. Surgery
is curative but requires a colectomy. The role of Biliary atresia
probiotics is under study. This is a rare disorder of unknown aetiology in
which there is either destruction or absence of the
extrahepatic biliary tree. It represents a rare but
HIRSCHSPRUNGS DISEASE important cause of persistent neonatal jaundice
(CONGENITAL AGANGLIONIC (Fig. 15.5).
MEGACOLON)
Clinical features
This is a rare genetic disorder of bowel innervation. The jaundice persists from the second day after
There is an absence of ganglion cells in the myen- birth and is distinguished by being due to a
teric and submucosal plexuses for a variable segment predominantly conjugated hyperbilirubinaemia

125
Disorders of the gastrointestinal system

Liver disease presenting in the newborn period:


Constipation
causes of conjugated hyperbilirubinaemia
Functional constipation is an increasingly common
Bile duct obstruction Biliary atresia condition and presents as infrequency in stooling,
Choledochal cyst difculty in bowel movements and stool retention. It
is important to distinguish this from Hirschsprungs
Neonatal hepatitis Congenital infection
Inborn errors: 1 antitrypsin deficiency disease in that vomiting is unusual, it occurs during
Galactosaemia toilet training, stool palpable in rectal vault and
soiling commonly occurring.
Fig. 15.5 Liver disease presenting in the newborn period: Note that functional constipation is not associ-
causes of conjugated hyperbilirubinaemia. ated with abdominal pain and treatment is often
prolonged with stool softeners and stimulant laxa-
tives. Psychological help is often sought for difcult
accompanied by dark urine and pale stools. As the
cases.
disease progresses there is failure to thrive due to:
Malabsorption.
Enlargement of the liver and spleen.
A bleeding tendency might develop due to vitamin
Constipation often leads to a
K deciency.
vicious cycleit leads to the
development of megarectum
Diagnosis which in turn worsens the
Abdominal ultrasound, liver biopsy and intraopera- constipation. It is vital to stress the importance of
tive cholangiography might be required to clarify long-term treatment with laxatives even if the
the diagnosis. childs constipation improvesthis is so that the
rectum returns to its normal size and function.
Treatment
Treatment consists of the Kasai procedure (hepato-
portoenterostomy), which should ideally be carried
out before the age of 6 weeks. Liver transplantation Further reading
is needed if this fails or if presentation is late. Even King AL, Ciclitira PJ. Celiac disease. Current Opinion in
with treatment, prognosis is poor. Gastroenterology 2000; 16:102106.

126
Renal and 16
genitourinary disorders
Objectives

At the end of this chapter, you should be able to


Know the common developmental anomalies of the urinary tract.
Recognize common inguinoscrotal conditions like undescended testes and inguinal
hernia.
Know the pathogenesis and clinical features of UTI in children.
Outline the investigations for a child with UTI.
Distinguish between acute nephritis and nephrotic syndrome.

Structural abnormalities of the kidney and urinary Renal anomalies


tract are common and many are now identied on
antenatal ultrasound screening. The most common Absence of both kidneys (renal agenesis) results in
disease encountered in this system is urinary tract Potter syndrome in which oligohydramnios (caused
infection, which has special signicance because of by lack of fetal urine) is associated with lung hypo-
its potential to damage the growing kidneys, leading plasia and postural deformities. Other anomalies
to hypertension and chronic renal failure. include:
Abnormalities of ascent and rotation.
Duplex kidney (Fig. 16.1).
Horseshoe kidney (Fig. 16.1).
Cystic disease of the kidney.
Renal dysplasia.
Presentation of urinary tract anomalies:
Urinary tract infection. Ectopia of the kidney is common and pain arising
Recurrent abdominal pain. from an ectopic kidney can be misleading on
Palpable mass. account of its site.
Haematuria. Duplex systems are commonly associated with
Failure to thrive. other abnormalities such as renal dysplasia and vesi-
coureteric reux. The upper pole ureter might be
ectopic (draining into the urethra or vagina) and the
lower pole ureter often reuxes.
There are many conditions associated with cystic
URINARY TRACT ANOMALIES kidneys including:

Congenital abnormalities of the kidneys and urinary Autosomal recessive infantile polycystic kidney
tract can be identied in about 1 in 400 fetuses. disease.
They might be detected on antenatal ultrasound Autosomal dominant adult-type polycystic
screening or present with a variety of symptoms and kidney disease.
signs in infancy or later childhood. Tuberous sclerosis.
Congenital anomalies of the urinary tract
include: Obstructive lesions of the
Renal anomalies.
urinary tract
Obstructive lesions of the urinary tract. The site of obstruction may be at the pelviureteric
Vesicoureteric reux. (PU) junction, the vesicoureteric (VU) junction, the

127
Renal and genitourinary disorders

The lower pole Pelviureteric obstruction


ureter
frequently refluxes
(congenital hydronephrosis)
Obstruction is caused by a narrow lumen or com-
pression by a brous band or blood vessel, and can
vary in degree from partial to almost complete
obstruction (with gross hydronephrosis and minimal
remaining renal tissue).
Mild degrees of obstruction can resolve spontane-
The upper pole ously but severe obstruction requires surgical treat-
ureter may be
ectopic, draining
ment with conservation of renal tissue wherever
into the urethra possible.
or vagina

Antenatal hydronephrosis is commonly


seen and often resolves after birth but
urgent investigation is indicated if
Horseshoe kidney Duplex kidney hydronephrosis is bilateral because it might indicate
urethral obstruction.

Fig. 16.1 Urinary tract anomalies.

Vesicoureteric obstruction
Obstruction can be due to stenosis, kinking or dila-
tation of the lower part of the ureter (ureterocele)
and can be unilateral or bilateral. There is a combi-
Hydronephrosis
nation of hydroureter and hydronephrosis.

Pelviureteric Posterior urethral valves


obstruction
Hydroureters These are abnormal folds of the urethral mucous
membrane, which occur in males in the region of
the verumontanum. They impede the ow of urine
with back-pressure on the bladder, ureters and
Vesicoureteric kidneys. The degree of obstruction varies from the
obstruction very severe (with death in utero from renal failure or
after birth from Potter syndrome) to the less severe
(which usually presents with urinary tract infection,
Posterior poor urinary stream and renal insufciency in a
urethral valve male).

Fig. 16.2 Sites of urinary tract obstruction and dilatation. Vesicoureteric reux
Primary vesicoureteric reux (VUR) is caused by a
bladder, or the urethra (Fig. 16.2). If undetected
developmental anomaly of the vesicoureteric junc-
before birth, the patient can present with:
tion. The ureters enter directly into the bladder,
A urinary tract infection. rather than at an angle and the segment of ureter
Abdominal or loin pain. within the bladder wall is abnormally short. Urine
Haematuria. reuxes up the ureter during voiding, predisposing
A palpable bladder or kidney. to infection and exposing the kidneys to bacteria

128
Genitalia 16

Fig. 16.3 Grades of vesicoureteric


Mild Moderate Severe
grade I grade III grade V reux.

Reflux into the Moderate dilatation of Gross dilatation of ureter,


ureter only ureter and renal pelvis renal pelvis, and calyces

and high pressure. There is a spectrum of severity


which is graded IV (Fig. 16.3). GENITALIA

Clinical features Inguinoscrotal disorders


VUR is often associated with other genitourinary Inguinoscrotal disorders include:
anomalies and may be secondary to bladder pathol- Undescended testis.
ogy, e.g. neuropathic bladder. The important conse- Inguinal hernia and hydrocele.
quences of VUR include: The acute scrotum.
Predisposition to urinary tract infection.
Urinary tract infection and pyelonephritis. Undescended testis
Reux nephropathy: this is destruction of renal
tissue with scarring due to infection and back- The testes develop intra-abdominally and migrate
pressure. If severe, it may result in high blood through the inguinal canal to the scrotum in the
pressure and chronic renal failure. third trimester. The testes are therefore normally in
the scrotum in term newborns, but are frequently
Diagnosis undescended in preterm infants.

VUR is diagnosed by a micturating cystourethro- Clinical features and examination


gram (MCUG). A testis that has not reached the scrotum (unde-
scended testis) might be:
Management
Mild VUR resolves spontaneously (10% each year) Incompletely descended: lying along normal
but prophylactic antibiotics (e.g. trimethoprim) are pathway (the minority, 20%).
given to prevent infection until the child: Maldescended or ectopic: deviated from the
normal path after emerging from the supercial
Is free of infection.
inguinal ring (the majority, 80%).
Has regained normal bladder control.
Is older than 5 years.
An undescended testis must be distinguished from
Surgery is indicated if prophylaxis fails and the VUR a retractile testis that can be coaxed down into the
is in grades IV or V. The siblings of children should scrotum. (Examination should be undertaken in a
be investigated. warm room with warm hands.)

129
Renal and genitourinary disorders

The testes are examined during routine surveil-


lance in the newborn, at 6 weeks and at 18 months.
Referral to a surgeon should be made if either testis In many children, the testes
is impalpable or an ectopic testis is found at the 6- may descend to its normal
week check. position in the rst year of life
Further investigations are helpful if one or both even if it was high up in the
testes are impalpable to determine their existence scrotum at birth. So parents should be informed
and location. These can include: that a surgical referral will usually be made only
after a year and this should not cause any harm to
Ultrasound. the child.
Magnetic resonance imaging.
Laparoscopy.
Endocrine investigations.
Inguinal hernias and hydroceles
The testes might be absent in cases of intersex.
The testis descends into the scrotum, taking with it
Management a connecting fold of peritoneum (the processus
Treatment is by orchidopexy and this is best per- vaginalis), which normally becomes obliterated at
formed between the age of 1 and 2 years. Potential, or around birth. Failure of the processus vaginalis
but unproven, benets include: to close results in an inguinal hernia or a hydrocele
(Fig. 16.4).
A reduced risk of torsion.
Psychological and cosmetic benets. Inguinal hernias
Reduced risk of malignancy. Inguinal hernias are more common in boys, prema-
Improved fertility. ture babies, and infants, with a positive family
history. A minority are bilateral. The parents notice
Orchidectomy is indicated for a unilateral intra- an intermittent swelling in the groin or scrotum.
abdominal testis that is not amenable to The main concern is the risk of strangulation,
orchidopexy. which is higher in young infants. Referral for prompt

A B C D

Proximal Vas deferens


processus and testicular
vaginalis vessels
obliterated

Tunica
vaginalis Testis

Normal obliterated Indirect hernia Inguino-scrotal Hydrocele due to


processus vaginalis hernia patent processus
vaginalis

Fig. 16.4 (A) The normal testis. Following normal testicular descent, the processus vaginalis, an evagination of the parietal
peritoneum between the internal inguinal ring and testis, disappears leaving only the tunica vaginalis around the testis.
Persistence of the processus vaginalis results in an inguinal hernia (B, C), or a hydrocele (D).

130
Genitalia 16

surgery is indicated. Danger signs in the initially associated with chordee, a ventral curvature of the
irreducible hernia are: penis.
Hardness.
Tenderness. Phimosis
Vomiting. This refers to adhesion of the foreskin to the glans
These suggest entrapment of bowel within the sac penis after the age of 3 years. Mild degrees can be
and compromise of its vascular supply (strangula- managed with periodic, gentle retraction. Paraphi-
tion). Urgent referral is imperative. mosis is irreducible retraction of the foreskin beyond
Sedation, analgesia and expert manipulation the coronal sulcus.
allow reduction, which is followed by surgical
repair. Circumcision
Hydroceles Non-retractility of the foreskin and preputial adhe-
If the connection with the processus vaginalis is sions are normal in small boys and forcible attempts
small, a hydrocele forms rather than an inguinal to retract the foreskin are ill-advised because this
hernia. The swelling is painless and, being full of might result in scarring and phimosis.
uid, it transilluminates. It is possible to get above Ballooning of the prepuce during urination is not
the swelling, which cannot be reduced. uncommon and this usually resolves as the prepuce
Spontaneous resolution by the age of 12 months becomes more retractile.
is common and treatment during infancy is not Balanitis xerotica obliterans (lichen sclerosus)
required unless the hydrocele is extremely large. causes a thickened, scarred, white prepuce that is
xed to the glans. This, recurrent balanitis (infection
The acute scrotum of the glans) and sometimes recurrent urinary tract
infection (UTI), are the only medical indications for
Acute pain and swelling of the scrotum is an emer-
circumcision. Most circumcisions are performed for
gency because of the possibility of testicular torsion.
religious reasons.
It occurs most frequently in the neonatal period and
at puberty, but can occur at any age.
Inadequate xation to the tunica vaginalis allows Complications of circumcision
the testis to rotate and occlude its vascular supply. Haemorrhage.
Doppler studies can assist in diagnosis. Infection.
Surgical exploration must not be delayed, as the Damage to the glans.
testis might become non-viable. The defect is often
bilateral, so the contralateral testis should also be The procedure should not be undertaken
xed at surgery. lightly.
The differential diagnosis includes: An infant with hypospadias must not be circum-
cised because the foreskin is used at surgical
Torsion of the testicular appendix (hydatid of
correction.
Morgagni).
Epididymo-orchitis.
Idiopathic scrotal oedema. Vulvovaginitis
Inammation of the vulva and vaginal discharge
Penile abnormalities is a common gynaecological complaint in pre-
Penile abnormalities include: pubertal girls. Poor hygiene and tight tting
clothes have not been shown to be predisposing
Hypospadias.
factors. A vulval swab might detect a yeast or
Phimosis.
streptococcal infection, which can be treated with
the appropriate topical or oral therapy. It is im-
Hypospadias portant to think of foreign bodies if a persistent
A spectrum of congenital abnormalities of the posi- discharge is seen. Rarely, vulvovaginitis results
tion of the urethral meatus occurs. Severe forms are from sexual abuse.

131
Renal and genitourinary disorders

enuresis) or pyelonephritis (fever and loin


URINARY TRACT INFECTION pain) occur. Asymptomatic bacteriuria is
common in school-age girls. This does not need
Infection of the urinary tract is common in children. treatment.
About 35% of girls and 12% of boys will have a
symptomatic UTI during childhood; boys out- Diagnosis
number girls until 3 months of age.
In children, most infections are caused by Esche- Conrmation of diagnosis requires culture of a pure
richia coli originating from the bowel ora. Other growth of a single pathogen of at least 108 colony-
pathogens include Proteus (especially in boys), Kleb- forming units per litre of urine. However, obtaining
siella, Pseudomonas and Enterococcus species. The an uncontaminated urine sample from infants and
most common host factor predisposing to UTI is children is not always easy (Fig. 16.5). Specimens
urinary stasis. Important causes of urinary stasis should be chilled without delay to 4C (i.e. refriger-
include: ate) to prevent bacterial multiplication.
A positive nitrite and leucocyte esterase stick test
Vesicoureteric reux (VUR). is a reliable test for coliform infection, but false
Obstructive uropathy, e.g. ureterocoele, urethral negatives occur if the urine has been in the bladder
valves. for less than an hour or the organism does not
Neuropathic bladder, e.g. spina bida. convert nitrate (e.g. enterococci).
Habitual infrequent voiding and constipation.

A urine sample should be cultured from:


An infant with a fever and no obvious
UTIs occur:
clinical source.
Predominantly in boys up to age 3
Any child with recurrent or prolonged fever.
months.
Any child with unexplained abdominal pain.
Equally in boys and girls from 3 to 12 months.
Any child with dysuria or frequency, enuresis or
Increasingly in girls rather than boys after age 1
haematuria.
year.
UTI presents with non-specic features in infants.
UTI must be suspected in any febrile infant with
no obvious clinical source. Treatment of the acute infection
Prompt treatment with antibiotics is indicated to
reduce the risk of renal scarring. This should be initi-
ated as soon as a urine sample has been taken for
Clinical features
culture. Treatment can be modied when urine
The clinical features vary markedly with age: culture results are available and stopped if the
In neonates and very young infants: jaundice culture is negative.
might occur and septicaemia can develop,
rapidly leading to shock and hypotension. Collecting a urine sample
In infants: UTI can occur, with or without fever,
and symptoms are non-specic; vomiting, Method Indication
diarrhoea, irritability, failure to thrive.
Suprapubic aspirate All babies under 6 months if an urgent
Between 1 and 5 years of age: fever, malaise, or reliable sample required
abdominal discomfort, urinary frequency and
Bag or pad sample Non-urgent samples or outpatient use
nocturnal enuresis are the presenting features.
In this age group, dysuria might also be due to Clean catch Older, more cooperative children
balanitis or vulvovaginitis. Catheter Only fresh samples valid for infection
Over 5 years of age: the classic presenting
features of cystitis (frequency, dysuria, fever and Fig. 16.5 Collecting a urine sample.

132
Acute nephritis 16

Antibiotic choice These investigations are deferred until 3 months


after the acute infection to avoid detecting transient
Oral trimethoprim is a suitable initial choice
abnormalities. Prophylactic antibiotics should be
for uncomplicated UTI in an older child but
given in the interim.
increasing microbial resistance is becoming a
problem.
Parenteral antibiotics, e.g. ampicillin plus Children aged between 1 and 5 years
gentamicin or cefuroxime, should be given to Ultrasonography and a radioisotope scan are recom-
neonates, any systemically unwell older child mended. MCUG can be reserved for:
and to children with signs of acute
pyelonephritis or a known urinary tract Children in whom the radioisotope scan shows
abnormality. an abnormality.
Prophylactic antibiotics should be given in low Children with recurrent infection.
dose after treatment of the acute infection, until Children with a family history of reux or
investigation of the urinary tract is complete. reux nephropathy.

The risk of developing renal scarring becomes less


Further investigation with increasing age and is uncommon with infec-
All children require further imaging of their urinary tion in children over 5 years of age.
tract after a rst conrmed UTI. The aim of this is Simple advice should be given concerning mea-
to identify: sures, which can reduce recurrence risk, i.e.

Any predisposing underlying anatomical or High uid intake.


functional abnormality of the urinary tract such Regular unhurried voiding.
as vesicoureteric reux. Lactobacilli, cranberry juice.
Renal scars. Good perineal hygiene.

Although the outcome for the majority of infants Children with recurrent UTI or scarring require
and children with UTI is benign, a small minority regular follow-up with a repeat urine culture, blood
are at risk of renal damage, especially those with pressure monitoring and further renal imaging to
recurrent infection associated with vesicoureteric check for new scar formation and resolution of vesi-
reux. coureteric reux.
The exact scheme depends on the age of the
child. No single imaging investigation provides a
full assessment. ACUTE NEPHRITIS
An initial ultrasound of the kidneys and urinary
tract is performed on all infants and young children. Acute nephritis is a clinical condition caused by
A renal ultrasound scan is valuable for: inammatory changes in the glomeruli. It is charac-
Demonstrating the presence of two kidneys. terized by:
Identifying obstruction with urinary tract Fluid retention (oedema, facial pufness).
dilatation. Hypertension.
It is not reliable for detecting renal scars or vesico- Haematuria.
ureteric reux. Proteinuria.

The majority of cases are postinfectious and follow


Infants aged under 1 year a streptococcal throat or skin infection with Group
In addition to ultrasonography, recommendations A -haemolytic streptococci. Less common causes
include: include:
Micturating cystourethrogram (MCUG), to HenochSchnlein purpura.
identify vesicoureteric reux. IgA nephropathy.
Static radioisotope scan (DMSA), to identify Systemic lupus erythematosus (SLE).
renal scars. Mesangiocapillary glomerulonephritis.

133
Renal and genitourinary disorders

Clinical features NEPHROTIC SYNDROME


The presenting history will be of discoloured
smoky urine. Physical examination reveals signs of The nephrotic syndrome is a clinical condition char-
uid overload such as oedema and raised blood acterized by heavy proteinuria, oedema and a low
pressure. plasma albumin (Fig. 16.6).
It is best classied into steroid sensitive (90%)
Diagnosis or steroid resistant (10%) as this is predictor of
The urine is positive for blood and protein, and outcome.
microscopy might reveal red cells and casts. Renal
function should be evaluated by measuring plasma Clinical features
urea, electrolytes and creatinine. The usual presenting feature is oedema, which man-
An abdominal X-ray and ultrasound might be ifests as:
required to exclude other causes of haematuria.
The aetiology is pursued with a throat swab, anti- Pufness around the eyes.
DNAase B, complement C3 levels and biopsy if Swelling of the feet and legs.
severe. In severe cases, gross scrotal oedema, ascites
and pleural effusions.
Management
Management centres around:
Diagnosis
Diagnosis is conrmed by documentation of pro-
Control of uid and electrolyte balance by
teinuria and hypoalbuminaemia, usually less than
monitoring intake and output.
25 g/L (normal range 3540 g/L). Additional inves-
Use of diuretics and antihypertensives as
tigations should include biochemical renal function
required.
tests (urea, electrolytes, creatinine), urine micros-
The prognosis of poststreptococcal nephritis is copy, C3, C4, antiDNAse B and hepatitis serology.
good. However, rarely, a rapidly progressive glo- The following features should prompt consider-
merulonephritis with renal failure occurs, especially ation of renal biopsy to identify rarer causes such as
in nephritis from other causes. No evidence that focal segmental glomerulosclerosis or membrano-
treatment of the preceding infection prevents renal proliferative glomerulonephritis, which are usually
complications. steroid resistant:

Comparison of acute glomerulonephritis and nephrotic syndrome

Feature Acute glomerulonephritis Nephrotic syndrome

Aetiology Most often poststreptococcal Usually idiopathic

Gross haematuria Very common Unusual

Hypertension Common Less common

Oedema Less prominent Prominent, generalized oedema

Urinalysis Red cell casts, proteinuria + Proteinuria +++

Serum C3 and C4 Usually decreased Usually normal

Anti DNase B/ASOT May be positive Negative

Treatment Supportive Steroids

Fig. 16.6 Comparison of acute glomerulonephritis and nephrotic syndrome.

134
Haemolytic uraemic syndrome 16

Age: <1 year or >12 years. Subsequent relapses might occur which are
Presence of macroscopic haematuria. treated with steroids, but if frequent, use of addi-
Low C3. tional immunosuppressive agents such as cyclo-
Failure to respond to 4 weeks of steroid phosphamide, levamisole or cyclosporin A may be
therapy. needed.
Persistent hypertension.
Evidence of renal failure.

Management HAEMOLYTIC URAEMIC


If the clinical features are consistent with classic SYNDROME
steroid-sensitive nephrotic syndrome, treatment is
begun with oral steroids (prednisolone, 60 mg/m2/ This is the most common cause of paediatric acute
day). Remission usually occurs within 10 days and renal failure and is associated with diarrhoea from
the doses tapered. Steroid resistance is dened as no E. coli O157:H7, which produces a verocytotoxin.
remission after 4 weeks. These cases are often resis- This toxin is released from the gastrointestinal tract
tant to other drugs and associated with chronic renal and results in fragmentation of the red blood cells,
failure. microangiopathic haemolytic anaemia and throm-
Fluid balance must be closely monitored with bocytopenia. The kidney vasculature becomes
daily weighing and salt restriction. thrombosed and infarcted.
Several serious complications may occur Management is supportive and most (90%) chil-
including: dren recover full renal function. Antibiotics are
contraindicated.
Hypovolaemia (manifested by a high PCV,
hypotension and peripheral vasoconstriction).
Thrombosis.
Secondary infection. Further reading
Hyperlipidaemia is not usually problematic in Eddy AA, Symons JM. Nephrotic syndrome in childhood.
children. Lancet 2003; 362:629639.
Larcombe J. Clinical evidence: Urinary tract infection
Penicillin prophylaxis is given in the acute phase to in children. British Medical Journal 1999; 319:
prevent secondary infection. 11731175.

135
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Neurological disorders 17
Objectives

At the end of this chapter, you should be able to


Understand the common developmental malformations of the central nervous
system.
Recognize the clincal features of raised intracranial pressure.
Know the clinical features and management of the common infections of the central
nervous system.
Understand the pathogenesis, clinical presentation and management of cerebral
palsy.
Understand the classication and common types of childhood epilepsy.
Identify common neurocutaneous syndromes.
Understand common neuromuscular disorders in children.

The developing nervous system is susceptible to


damage by a host of diverse pathological processes:
inherited and acquired. Malformations, infections,
Suspect hydrocephalus in an infant with
trauma, genetic diseases and tumours all affect the
a rapidly enlarging head circumference.
nervous system. Several important conditions affect-
ing the nervous system are considered elsewhere:
Neonatal hypoxiaischaemia (see Chapter 25).
Head injury (see Chapter 26). The causes include a variety of acquired patho-
Coma (see Chapter 26). logical mechanisms as well as malformations (Fig.
Brain tumours (see Chapter 20). 17.1). Hydrocephalus is classied according to
Neural tube defects (see Chapter 9). whether or not the ventricles communicate with the
subarachnoid space:
In non-communicating hydrocephalus the
MALFORMATIONS OF THE obstruction is intraventricular.
CENTRAL NERVOUS SYSTEM In communicating hydrocephalus the
obstruction is extraventricular.
If severe, these cause fetal loss or early death. They
encompass such important conditions as: Clinical features
Hydrocephalus. The presenting clinical features vary with age. Dilated
Craniosynostosis. ventricles can be detected on antenatal ultrasound.
Neural tube defects. In infants:
The head circumference is disproportionately
Hydrocephalus large and its rate of growth is excessive.
Hydrocephalus is enlargement of the cerebral ven- The pressure on the anterior fontanelle is
tricles due to excessive accumulation of cerebrospi- increased, sutures become separated and
nal uid (CSF). This condition is the most frequent scalp veins are prominent. If untreated,
cause of an enlarged and rapidly expanding head in the eyes deviate downward (setting-sun
newborn infants. sign).

137
Neurological disorders

Causes of hydrocephalus
Craniosynostosis
This is premature fusion of the cranial sutures.
Non-communicating (intraventricular obstruction) Most affected infants present soon after birth with
Congenital malformation:
Aqueduct stenosis an abnormal skull; the shape of this depends on
DandyWalker syndrome
Intraventricular haemorrhage
which sutures have fused. The sagittal suture is
Ventriculitis most commonly involved, causing a long, narrow
Brain tumour skull.
Communicating (extraventricular obstruction)
Subarachnoid haemorrhage
Generalized craniosynostosis is a cause of
Tuberculous meningitis microcephaly.
ArnoldChiari malformation In the presence of increased intracranial pressure,
a craniectomy is performed.
Fig. 17.1 Causes of hydrocephalus.

In older children, the clinical features are those of Neural tube defects
raised intracranial pressure: These used to be the most common congenital
defects of the CNS and are considered in detail in
Headache.
Chapter 9. In the UK, the birth prevalence has fallen
Vomiting.
because of antenatal screening. There has also been
Lethargy.
a natural decline, the cause of which is uncertain. A
Irritability.
range of lesions occur:
Papilloedema.
Spina bida occulta: the vertebral arch fails to
fuse; seen in 5% of all children.
Meningocele: meninges herniate through a
vertebral defect. Usually minimal neurological
Signs of increased intracranial pressure:
defects.
Altered sensorium.
Myelomeningocele: meninges and spinal cord
Headache.
herniatedthe most severe form of spinal
Vomiting.
dysraphism.
Decerebrate/decorticate posturing.
Encephalocoele: extrusion of the brain
Abnormalities of pupillary size and reaction.
and meninges through a midline skull
Papilloedema.
defect.
Respiratory abnormalities.
Anencephaly: the cranium and brain fail to
develop (detected on antenatal ultrasound
and termination of pregnancy is usually
performed).
Diagnosis
Diagnosis is conrmed by imaging. If the anterior
fontanelle is still open, ultrasound can be used to
assess ventricular dilatation. A computed tomogra- INFECTIONS OF THE CNS
phy scan (CT) or magnetic resonance imaging (MRI)
will establish the diagnosis, evaluate the cause and Meningitis
is useful for monitoring treatment and detecting
A range of bacteria and viruses (Fig. 17.2) can cause
complications.
acute meningitis. Rare causes include tuberculosis,
fungal infections and malignant inltration. The
Treatment serious and potentially lethal nature of bacterial
The mainstay of treatment is insertion of a ventricu- meningitis renders it most important. Although
loperitoneal shunt. Complications of shunts include more common, viral meningitis is a relatively benign
obstruction and infection. and self-limiting disease.

138
Infections of the CNS 17

Seizures: beware the child diagnosed with


Acute meningitis: common pathogens
benign febrile convulsions.
Bacterial Meningococcal infection can present with a charac-
Neisseria meningitidis
Streptococcus pneumoniae teristic non-blanching purpuric rash if septicaemia
Haemophilus influenzae type B is present.
During the neonatal period:
Group B streptococci Diagnosis
E. coli
Lumbar puncture (LP) and examination of the cere-

Viral
Listeria monocytogenes
brospinal uid (CSF) is diagnostic. A high index
Mumps
of suspicion is necessary in young children in
Enteroviruses
EpsteinBarr virus whom signs and symptoms of meningitis are
non-specic.
Fig. 17.2 Meningitis: common pathogens. Treatment should be started and LP performed if
there is no contraindication. Contraindications to
LP include signs of raised intracranial pressure
(depressed conscious state, papilloedema and or
focal neurological signs), coagulopathy and septic
shock. A CT scan does not exclude raised intracra-
Early signs of meningitis in infants are
nial pressure.
non-specic. Immediate treatment with
Rapid diagnostic tests are available (see Chapter
parenteral penicillin is indicated for suspected
30). Blood cultures should also be taken prior to
meningococcal septicaemia.
antibiotic therapy.
Treatment
Broad-spectrum intravenous antibiotic treatment is
Bacterial meningitis initiated using a third-generation cephalosporin,
e.g. ceftriaxone. A febrile child with a purpuric rash
The peak age of incidence is younger than 5 years
(i.e. suspected meningococcal sepsis) should be
old and 80% of all cases occur in children under
treated immediately with benzylpenicillin (IM or
16 years. Meningococcal meningitis accounts for
IV) and transferred urgently to hospital. Meningo-
over half of all cases and in the UK; group B is the
coccal septicaemia can kill within hours and early
most common variety. Pneumococcal meningitis is
antibiotic treatment signicantly reduces fatality
uncommon but affects younger children and is asso-
rates.
ciated with higher fatality and neurological sequelae.
There is evidence that a component of the tissue
Since the introduction of Hib vaccination (in 1992
damage in meningitis is caused by the hosts inam-
in the UK) and Men C vaccination, meningitis due
matory response. Attempts have been made to sup-
to H. inuenzae type B and meningococcus C has
press this with steroids: dexamethasone has been
become rare.
shown to reduce the incidence of some neurological
The pathogens are carried in the nasal passages
sequelae, e.g. hearing loss, in non-neonatal menin-
and invade the meninges via the bloodstream. In
gitis caused by H. inuenzae and S. pneumoniae.
the early stages, symptoms and signs are non-
specic, making diagnosis difcult, especially in Complications
infants. Acute complications of meningitis include:
Clinical features Subdural effusion.
There might be irritability, poor feeding, vomiting, Cerebral oedema.
fever and drowsiness. More specic signs develop Convulsions.
later, including: SIADH.
A bulging fontanelle in infants. Neurological sequelae include sensorineural deaf-
Neck stiffness and photophobia in the older ness: all children should have their hearing tested
child. following meningitis. Rifampicin, ciprooxacin or

139
Neurological disorders

ceftriaxone should be given to all household con- Acute postinfectious polyneuropathy


tacts following infection with meningococcus to (GuillainBarr syndrome)
eradicate nasopharyngeal carriage.
This demyelinating polyneuropathy follows 23
Encephalitis weeks after a viral infection with, for example,
cytomegalovirus or EpsteinBarr virus, or infection
In encephalitis there is inammation of the brain with Mycoplasma pneumoniae or Campylobacter
substance. Acute encephalitis is usually viral. The jejuni.
most common causes in the UK are:
Clinical features
Herpes simplex virus 1 and 2. GuillainBarr syndrome usually begins with eet-
Enteroviruses. ing sensory symptoms in the toes and ngers
Varicella. and progresses to a symmetrical, ascending paralysis
The common viral exanthems (measles, rubella, with early loss of tendon reexes. Autonomic
mumps and varicella) can all cause encephalitis by involvement might occur, with dysrhythmias, and
direct viral invasion of the brain or can be compli- bulbar involvement can cause respiratory failure.
cated by an immune-mediated postinfectious The disease can progress over several weeks. The CSF
encephalomyelitis (see below). protein is characteristically markedly raised without
an increase in white cell count.
Clinical features Management
The clinical features include early non-specic Supportive care including assisted ventilation might
symptoms and signs such as fever, headache, and be required. Respiratory function must be moni-
vomiting, followed by the abrupt development of tored closely. Specic therapy includes immuno-
an encephalopathic illness characterized by altered globulin infusion and plasma exchange. There might
consciousness and personality and seizures. be residual neurological problems but in children a
full recovery is expected.
Diagnosis and management
High-dose aciclovir should be given in all cases to
CEREBRAL PALSY
cover herpes simplex until results of investigations
are available.
Cerebral palsy (CP) is dened as a disorder of motor
Diagnosis is difcult acutely, but EEG and MRI
function due to a non-progressive (static) lesion of
might show evidence of the characteristic temporal
the developing brain. It is useful to remember
lobe abnormalities.
that:
Supportive management for severe encephalitis
requires: Although the lesion is non-progressive, the
clinical manifestations evolve as the nervous
Admission to an intensive care unit if there are
system develops.
concerns about airway, breathing or circulation.
Children with cerebral palsy often have
Seizure control and monitoring for raised
problems in addition to disorders of movement
intracranial pressure.
and posture, reecting more widespread
damage to the brain.
Postinfectious syndromes The cause is unknown in many patients but identi-
These can affect the brain or peripheral nervous ed risk factors can be categorized into antenatal,
system: intrapartum and postnatal (Fig. 17.3). It is impor-
tant to be aware that perinatal asphyxia is an uncom-
Postinfectious encephalomyelitis: delayed brain
mon cause (321%) of CP.
swelling caused by an immune-mediated
inammatory reaction to viral infection. It may
follow any of the common viral exanthems.
Clinical features
Varicella zoster typically causes an acute There might be a history of risk factors and motor
cerebellitis. delay. CP can present with:

140
Cerebral palsy 17

Causes of cerebral palsy Classification of cerebral palsy

Antenatal (80%) Spastic (70%)


Cerebral dysgenesis Hemiplegic
Congenital infections: Diplegic
Rubella Quadriplegic
CMV Dyskinetic (10%)
Toxoplasmosis
Intrapartum (10%)
Athetoid
Dystonic
Birth asphyxia Ataxic (10%)
Postnatal (10%) Hypotonic
Preterm birth: Mixed (10%)
Hypoxicischaemic encephalopathy
Intraventricular haemorrhage
Hyperbilirubinaemia Fig. 17.4 Classication of cerebral palsy.
Hypoglycaemia
Head injury
Intracranial infection:
Meningitis Diplegia: all four limbs are affected, but legs
Encephalitis
more than arms. This is the characteristic CP of
the preterm infant.
Fig. 17.3 Causes of cerebral palsy. Quadriplegia: all four limbs are affected, but
arms worse than legs. There is often truncal
involvement, with seizures and intellectual
Delayed motor milestones. impairment. This is the most severe form and is
Abnormal tone and posturing in infancy. the characteristic CP of severe birth asphyxia.
Feeding difculties due to lack of oromotor
coordination. Ataxic cerebral palsy
Speech and language delay.
Caused by damage to the cerebellum or its path-
ways. Features include early hypotonia with poor
Diagnosis balance, uncoordinated movements and delayed
The diagnosis is made on clinical examination, motor development.
which might show abnormalities of:
Dyskinetic cerebral palsy
Tone, e.g. hypertonia or hypotonia.
Power, e.g. hemiparesis. Caused by damage to the basal ganglia or extra-
Reexes, e.g. brisk tendon reexes or abnormal pyramidal pathways (e.g. in kernicterus). The
absence (or persistence) of primitive reexes. clinical presentation is often with hypotonia and
Abnormal movements, e.g. athetosis or chorea. delayed motor development. Abnormal involun-
Abnormal posture or gait. tary movements, which include chorea (abrupt,
jerky movements), athetosis (slow writhing con-
Classication tinuous movements) or dystonia (sustained abnor-
mal postures) might appear later.
Cerebral palsy is classied according to the anatomi-
cal distribution of the lesion and the main func-
Management
tional abnormalities (Fig. 17.4).
Management of CP requires a multidisciplinary
Spastic cerebral palsy approach involving the paediatrician, often a com-
munity paediatrician, GP, paediatric neurologist
Damage to the pyramidal pathways causes increased
health visitor, community nursing team, speech and
limb tone (spasticity) with brisk deep-tendon
language therapist, physiotherapists and occupa-
reexes and extensor plantar responses. Hypotonia
tional therapists. Accurate diagnosis and prognosis
might precede spasticity. The distribution of affected
must be given to the parents. Prognosis in early
limbs allows further classication:
infancy can be uncertain. Motor function may be
Hemiparesis: an arm might be affected more worsened by hypertonia, which is treated by
than leg or vice versa. physiotherapy, muscle relaxants (e.g. diazepam,

141
Neurological disorders

In epilepsy, a diagnosis is made in a patient in


Problems associated with cerebral palsy
whom epileptic seizures recur spontaneously.
Mental retardation and learning difficulty
However, it is important to recognize that an
Ophthalmic and auditory abnormalities epileptic seizure can be provoked in individuals
Seizures who do not have epilepsy (examples of provoking
Gastro-oesophageal reflux
Feeding problems and failure to thrive insults include fever, hypoglycaemia, trauma and
Recurrent pneumonia hypoxia).
Fig. 17.5 Problems associated with cerebral palsy.

baclofen), botulinum toxin injections to specic


Diagnosis of epilepsy rests in a good
muscle groups or surgical intervention. A pro-
history from a witness, not on
gramme of physiotherapy might be indicated and
investigations.
orthopaedic intervention is often benecial (braces,
Epilepsy affects 5 per 1000 school-age children.
surgery, special shoes). Attention must be paid to
Up to 75% of childhood epilepsy will have no
associated problems such as sensory decits, learn-
identiable cause.
ing difculties and epilepsy (2550% of all children
Children with partial seizures require brain
experience seizures) which are often difcult to
imaging.
control (Fig. 17.5).

EPILEPSY
Classication and terminology
Epilepsy is common, affecting 5 out of 1000 school- The International League Against Epilepsy has
age children. It is useful to distinguish between an devised a useful classication system for epileptic
epileptic seizure, which is a transient event, and seizures and for epilepsies and epilepsy syndromes.
epilepsy, which is a disease or syndrome: In any patient, an attempt should be made to:
An epileptic seizure is a transient episode of Identify the types of seizure occurring.
abnormal and excessive neuronal activity in the Diagnose the epilepsy or epilepsy syndrome
brain that is apparent either to the subject or an present.
observer.
Terms such as grand mal and petit mal are outdated
Epilepsy is a chronic disorder of the brain
and should be avoided.
characterized by recurrent, unprovoked epileptic
seizures.
Classication of epileptic seizures
Several important features of these denitions
The initial division is into (Fig. 17.6):
require emphasis. With epileptic seizures:
Generalized seizures: in which the rst clinical
The abnormal neuronal activity during an
change indicates initial involvement of both
epileptic seizure can be manifested as a motor,
cerebral hemispheres.
sensory, autonomic, cognitive or psychic
Partial seizures: in which there is initial
disturbance. The neurophysiological basis is
activation of part of one cerebral hemisphere.
inferred on clinical grounds.
A convulsion is a subtype of seizure in which Partial seizures are further classied into:
motor activity occurs.
Simple, in which consciousness is retained.
An electrophysiological disturbance
Complex, in which consciousness is impaired
unaccompanied by any clinical change is not
or lost.
classied as an epileptic seizure.
Many paroxysmal disturbances (funny turns) A partial seizure can become secondarily
mimic epileptic seizures (see Chapter 5). generalized.

142
Epilepsy 17

Classication of epilepsies and An additional category is provided for those in


epilepsy syndromes which it is undetermined whether seizures are focal
or generalized, either because the seizure type is
The recent trend is to classify epilepsy into syn- uncertain or because both focal and generalized sei-
dromes. Most epilepsy syndromes have a typical zures occur.
prognosis and respond to specic anticonvulsants. Further subdivision is according to aetiology
The initial division is according to the seizure into:
type (Fig. 17.7) into:
Idiopathic (or primary): in which there is no
Generalized epilepsies and syndromes. apparent cause except perhaps for genetic
Localization: related epilepsies and syndromes. predisposition.
Symptomatic: in which the cause is known or
suspected.
Classification of epileptic seizures
Causes of epilepsy
Generalized Epilepsy can result from a very diverse group of
Absence seizures
pathological processes but it is important to realize
Myoclonic seizures
Clonic seizures that in about 50% of children no cause will be
Tonic seizures
identied, even after extensive evaluation. It can be
Tonicclonic seizures
Atonic seizures
Partial
assumed that the aetiology in these cases of so-called
idiopathic or primary epilepsy is genetic. A specic
Simple (consciousness not impaired)
With motor symptoms (Jacksonian) cause (Fig. 17.8) is more likely to be identiable in
With somatosensory or special sensory symptoms patients with partial or intractable epilepsy.
With autonomic symptoms
With psychic symptoms
Complex (with impairment of consciousness) Diagnosis
Beginning as simple partial seizure
With only impairment of consciousness A careful and complete history is the mainstay of
With automatisms
Partial seizure with secondary generalization
diagnosis. A detailed description is required of the
events before, during and after a suspected seizure
(a video recording is a potentially useful adjunct).
Fig. 17.6 Classication of epileptic seizures. The rst aim is to distinguish true epileptic seizures

Fig. 17.7 Classication of epilepsy.


Classification of epilepsy

Generalized epilepsies and epilepsy syndromes


Idiopathic generalized epilepsy (IGE), defined syndromes include:
Benign familial neonatal convulsions
Childhood absence epilepsy (CAE)
Juvenile absence epilepsy (JAE)
Juvenile myoclonic epilepsy (JME)
Symptomatic generalized epilepsy, defined syndromes include:
Infantile spasms (West syndrome)
LennoxGastaut syndrome
Cerebral malformations
Progressive myoclonic epilepsies including:
Inborn errors of metabolism
Neurodegenerative diseases
Localization-related epilepsies and epilepsy syndromes
Idiopathic partial epilepsy, defined syndromes include:
Benign childhood epilepsy with centrotemporal spikes (benign rolandic epilepsy)
Symptomatic partial epilepsy, defined syndromes include:
Epilepsy caused by focal lesions of the brain associated with:
Cortical dysgenesis
CNS infection
Head injury
AV malformations
Brain tumours

143
Neurological disorders

non-specic or even so-called epileptiform abnor-


Causes of symptomatic epilepsy
malities can be found in 23% of normal asymp-
Cortical dysgenesis
tomatic children. A routine interictal EEG does not
Cerebral malformations therefore prove or disprove a diagnosis of epilepsy.
Genetic diseases: Additional information can be obtained from ambu-
Neurocutaneous syndromes
Down syndrome latory EEG monitoring, telemetry with simultane-
Fragile X syndrome ous video recording or recordings during sleep or
Neurodegenerative disorders
after sleep deprivation.
Inborn errors of metabolism
Cerebral tumours
Cerebral damage due to:
Head trauma Neuroimaging
Birth asphyxia, hypoxiaischaemia
Not all children with epilepsy require a brain scan.
Intracranial infection (meningitis, encephalitis)
Indications for neuroimaging include:
Fig. 17.8 Causes of symptomatic epilepsy.
Partial seizures.
Intractable, difcult to control seizures.
from the many paroxysmal disturbances (see A focal neurological decit.
Chapter 5) that can mimic them: Evidence of a neurocutaneous syndrome or of
neurodegeneration.
Breath-holding attacks. Children less than 2 years old with nonfebrile
Reex anoxic seizures. convulsions.
Vasovagal syncope (simple faints).
Cardiac dysrhythmias. CT is more readily available and quicker to perform.
However, new modalities of MRI offer greater sen-
Enquiry should be made concerning possible pre- sitivity in the detection of small lesions, e.g. in tem-
disposing events (head injury, intracranial infec- poral lobe or subtle cortical dysgeneses.
tion) and any family history of epilepsy.
Physical examination in a child with uncompli-
Other investigations
cated epilepsy is frequently normal. Careful atten-
tion should be paid to the skin to identify the Additional specic investigations, which might be
stigmata of neurocutaneous syndromes (including appropriate if there is clinical suspicion of an under-
Woods light examination) and to the fundi because lying neurometabolic disorder, include:
retinal changes can provide a clue to aetiology. Plasma and urine amino acids.
Biopsy of skin or muscle.
Measurement of white blood cell enzymes.
DNA analysis.

Always examine the skin completely in Some important


children with recurrent seizures. epilepsy syndromes
Infantile spasms (West syndrome)
This is a sinister but happily uncommon variety of
Investigations epilepsy with peak onset between 4 and 6 months
of age. Myoclonic seizures occur, often as salaam
EEG attacksviolent exor spasms of head, trunk and
This might be useful as an aid to diagnosis, in iden- limbs followed by extension of the arms. They are
tifying a particular epilepsy syndrome or in iden- often multiple and can be misdiagnosed as colic.
tifying an underlying anatomical lesion or The EEG shows hypsarrhythmia, a chaotic pattern
neurodegenerative disorder. However, it must be of large-amplitude slow waves with spikes and sharp
borne in mind that a single interictal EEG will be waves. Seventy per cent of the patients have the
normal in up to 50% of children with epilepsy, and symptomatic form, and important causes include

144
Epilepsy 17

Fig. 17.9 EEG in a typical absence


Childhood seizure. There is 3/s spike and wave
absence discharge, which is bilaterally
epilepsy synchronous.

5 1

6 2

7 3

8 4

tuberous sclerosis and perinatal hypoxicischaemic


encephalopathy. The prognosis is poor but can be
Children with epilepsy should
improved by early treatment. Treatment is with
be encouraged to participate
adrenocorticotrophic hormone (ACTH) or vigaba-
in and enjoy a full social life.
trin, the latter is particularly effective if associated
Certain activities however, do
with tuberous sclerosis.
require special precautions:
Swimming: a competent adult swimmer should
Childhood absence epilepsy be present to provide supervision.
Domestic bathing: patients should be supervised
This relatively common variety of epilepsy has a
in the bath, older children should be advised not
peak onset at 67 years (range 412 years). The
to lock the door.
absence seizures comprise transient unawareness
Cycling: a helmet must be worn and trafc
(blank spells), but without loss of body tone. They
avoided.
typically last for 515 seconds but can be very fre-
Climbing: climbing trees and rocks is best avoided.
quent, with up to several hundred daily. Episodes
can be induced by hyperventilation. The ictal EEG
is characteristic with generalized, bilaterally syn-
chronous three-per-second spike-wave discharges
It is important to consider the psychological and
(Fig. 17.9). The prognosis is good with spontaneous
educational implications. Overprotection by the
remission in adolescence in the majority of chil-
parents should be sympathetically discouraged.
dren. Sodium valproate is the drug of rst choice,
Behavioural and emotional difculties can occur in
although medication is not required for infrequent
the teenage years, with loss of self-esteem, anxiety
absences.
or depression. The diagnosis should be discussed
with school staff. Learning difculties are present in
Management of epilepsy a proportion of children with epilepsy, but only a
Effective management of a child with epilepsy minority require special schooling.
involves far more than the prescription of anti-
epilepsy drugs (AEDs). Both the child and parents Anti-epilepsy drugs (AEDs)
need to be educated about the condition, the prog- Not all children with epilepsy require drug treat-
nosis and the nature of the particular epilepsy or ment. Many clinicians would not start treatment
epilepsy syndrome. after a single brief generalized tonic-clonic seizure

145
Neurological disorders

or for infrequent myoclonic or absence seizures. The underlying infection causing the fever might
Commonly used AEDs are sodium valproate and be a viral illness or a bacterial infection such as oti-
carbamazepine, though newer antiepileptics like tis media, tonsillitis, pneumonia or urinary tract
lamotrigine, topiramate, vigabatrin etc. are being infection.
increasingly used. The currently recommended rst
line treatment is:
Clinical features
Sodium valproate for generalized epilepsy. Most children are well after the seizure but menin-
Carbamazepine for partial epilepsy. gitis can present with seizures and fever, so it is very
Monotherapy will achieve total seizure control in important to exclude this diagnosis. This often
70% of children. Blood level monitoring reects requires a lumbar puncture in young children (under
compliance and not efcacy. Identifying the epile- 18 months) presenting with a rst febrile seizure in
psy syndrome may help to choose the right drug, whom specic signs of meningitis might be absent.
e.g. vigabatrin is particularly effective in treating Prognosis is very good and, despite a 30% chance
infantile spasms but is associated with permanent of recurrence, a normal neurological outcome is
visual eld defects. expected.

Management
FEBRILE SEIZURES Management includes:
A febrile seizure is a seizure associated with fever in Identication and treatment of underlying
a child between 6 months and 6 years of age in the infection: this might be apparent on clinical
absence of intracranial infection or an identiable examination but additional investigations to
neurological disorder. consider include CXR, FBC, blood culture, urine
Febrile seizures are the most common cause of microscopy and culture, and lumbar puncture.
seizures in childhood and occur in about 3% of Keeping the patient cool with regular
children. There might be a familial predisposition. antipyretics and tepid sponging.
The seizures usually occur when body temperature Termination of a prolonged convulsion (i.e. for
rises rapidly. They are typically brief (12 min), gen- longer than 510 min) with rectal diazepam.
eralized, tonic-clonic seizures. Parental education (Fig. 17.10).

Information for parents about febrile seizures

Will it happen again? About one third of children have recurrent febrile seizures
Recurrence is more likely if the first seizure occurs under the age of 18 months or if there is a
family history

Can I prevent further episodes? During febrile illnesses, the child should be kept cool with antipyretics, removal of clothing, and
tepid sponging

What should I do if a convulsion occurs? Place child in recovery position


Parents of children at risk of frequent or prolonged seizures can be supplied with rectal
diazepam to administer if a seizure lasts longer than 5 minutes

Is it epilepsy? Febrile seizures are not classified as epilepsy


About 3% of children with febrile seizures go on to develop afebrile recurrent seizures, i.e.
epilepsy, in later childhood
Risk factors for epilepsy include:
Seizures that are focal, prolonged (>15 minutes) or recur in the same illness
First-degree relative with epilepsy
Neurological abnormality

Fig. 17.10 Information for parents about febrile seizures.

146
Neurodegenerative disorders of childhood 17

new mutations. It is genetically heterogeneous with


NEUROCUTANEOUS SYNDROMES one disease gene on chromosome 9 and a second
gene on chromosome 16.
It is no surprise that skin and CNS disease are associ- Classically it presents with seizures, mental
ated as both organs develop from the endoderm. retardation and facial angiobromas (adenoma
sebaceum). Examination reveals hypopigmented
Neurobromatosis type 1 macules, which are better seen on examination with
(von Recklinghausen disease) a Woods light.
This is an autosomal dominant disorder affecting It is a multisystem disease affecting not only the
about 1 in 4000 live births. About 50% of cases skin and brain but also the heart, kidneys and lungs.
result from new mutations and have no family
history. The important clinical features include: SturgeWeber syndrome
Caf-au-lait patches on the skin: at least six This sporadic disorder is characterized by:
must be present because 50% of normal Unilateral facial naevus (port-wine stain) in the
individuals have at least one. distribution of the trigeminal nerve.
Lisch nodule (pigmented hamartomas on the Angiomas involving the leptomeningeal vessels
eye): usually seen after 5 years of age. in the brain leading to seizures.
Neurobromas, which might be palpable, on Haemangiomas in the spinal cord.
the peripheral nerves: these manifest after 8
years of age. There are abnormal blood vessels over the surface
of the brain, which might be associated with sei-
Neurobromatosis type 2 (NF2) zures, hemiplegia and learning difculties. Ocular
involvement can result in glaucoma.
Also known as central neurobromatosis, NF2 is a A CT scan of the brain typically shows unilateral
distinct disease due to mutations in a different gene intracranial calcication with a double contour like
on chromosome 22. It is much rarer than type 1 a railway line and cortical atrophy.
(affecting 1 in 40 000 people) and is characterized
by bilateral acoustic neuromata and other CNS
tumours (Fig. 17.11). NEURODEGENERATIVE
DISORDERS OF CHILDHOOD
Tuberous sclerosis
This is an autosomal dominant disorder affecting 1 A large number of individually rare but important
in 7000 live births. Up to 75% of cases represent inherited diseases are associated with progressive

Differences between NF1 and NF2

Feature NF1 NF2

Incidence About 1/4000 About 1/50 000

Inheritance Autosomal dominant; chromosome 17 Autosomal dominant; chromosome 22

Caf-au-lait spots Characteristic Uncommon

Skin neurofibromas Common Uncommon

Lisch nodules Characteristic Uncommon

Family history About 50% are inherited Mostly new mutations

Acoustic neuromas Uncommon Characteristic, often bilateral

Risk of CNS tumours Common Common

Fig. 17.11 Differences between NF1 and NF2.

147
Neurological disorders

neurodegeneration in childhood. Most are autoso- Features of neurodegerative diseases include:


mal recessively inherited and genetic and biochemi-
Regression of milestones.
cal defects have been established at a molecular level
Progressive dementia.
in many cases. Acquired forms do occur, such as
Epilepsy.
prion disease and subacute sclerosing panencepha-
Visual loss.
litis. Loss of acquired skills is the hallmark of a
Ataxia.
neurodegenerative disorder
Alterations in tone and reexes (depending on
the precise pattern of nervous system
Clinical features involvement).

The clinical hallmark is a progressive, worsening Parental consanguinity increases the risk of such
decit. It is important to distinguish between devel- disorders (Fig. 17.12).
opmental delay and developmental regressionin
delayed development, milestones are not achieved
in time, but once attained, they are not lost. In NEUROMUSCULAR DISORDERS
regression, there is a gradual loss of milestones
that have already been attained. The child may have These are best considered according to their ana-
a normal initial development, only to lose those tomical site (Fig. 17.13) in the lower motor pathway.
skills later, indicating a progressive disorder of the Genetic, infective, inammatory and toxic factors
brain. can cause this group of diseases (Fig. 17.14).

Inherited neurodegenerative diseases--some examples Neuromuscular disorders

Lysosomal storage diseases Anterior horn cell


Sphingolipidosis, e.g. TaySachs disease Spinal muscular atrophy
Mucopolysaccharidosis, e.g. Hurler syndrome (MPS1) Poliomyelitis
Peroxisomal disorders Peripheral nerve
Adrenoleucodystrophy Hereditary neuropathy
Trace metal metabolism GuillainBarr syndrome
Wilsons disease Bell's palsy
Menkes syndrome Neuromuscular junction
Myasthenia gravis
Fig. 17.12 Inherited neurodegenerative diseasessome Muscle
examples. Muscular dystrophies
Myotonia
Congenital myopathies

Fig. 17.13 Neuromuscular disorders.

Pattern of inheritance of some of the conditions affecting the nervous system

Condition Inheritance Locus

Duchenne/Becker muscular dystrophy X-linked recessive Xp21

Myotonic dystrophy Autosomal dominant (genomic imprinting) 19q13

Neurofibromatosis type 1 Autosomal dominant 17q11.2

Neurofibromatosis type 2 Autosomal dominant 22q1.11

Tuberous sclerosis Autosomal dominant TSC 19q34


TSC 216p13

Fig. 17.14 Pattern of inheritance of some of the conditions affecting the nervous system.

148
Neuromuscular disorders 17

Clinical features Pseudohypertrophy of calf muscles and


proximal muscle weakness.
The hallmark of these disorders is weakness. They Positive Gowers sign (evident at 35 years):
can present with: the hands are used to push up on the legs
Floppiness (hypotonia). to achieve an upright posture, indicating
Delayed motor milestones. weakness of the lower back and pelvic girdle
Weakness, fatiguability. muscles.
Abnormal gait. Scoliosis and contractures.
Dilated cardiomyopathy.
Clinical features on examination include hypotonia, Mild learning difculties.
muscle weakness or wasting, abnormal gait and
reduced tendon reexes. Diagnosis
Investigations to conrm the diagnosis include:
Diagnosis
Serum creatine kinase level (1020 times
Special investigations useful in the diagnosis of neu- normal).
romuscular diseases include: Muscle biopsy and EMG.
Muscle enzymes: serum creatine kinase DNA analysis (identication of mutations in
is elevated in Duchenne and Becker the dystrophin gene): positive in 65%.
dystrophies.
Electrophysiology: nerve conduction studies Management
and electromyography. Treatment is supportive. Walking can be prolonged
Biopsy: muscle or nerve may be biopsied. by provision of orthoses and scoliosis can be helped
DNA analysis: direct mutational analysis of by a truncal brace or moulded seat. Early diagnosis
disease genes in certain disorders. is important to allow identication of female carri-
Imaging: ultrasound, CT or MRI of muscle. ers and genetic counselling. Respiratory symptoms
Edrophonium test: for myasthenia gravis. can be helped with non-invasive respiratory ventila-
tion in certain cases. Cardiomyopathy worsens with
age and is often the cause of death.
Muscular dystrophies
This group of inherited disorders is characterized by Becker muscular dystrophy
progressive degeneration of muscle and absence of
abnormal storage material. The most common and This disease is milder than Duchenne muscular dys-
important is Duchenne muscular dystrophy. trophy but is caused by a mutation in the same gene.
The average age of onset is much later (in the second
decade of life) with prolonged survival.
Duchenne muscular dystrophy
This X-linked recessive disease affects 1 in 4000 Myotonic dystrophy
male infants. About one-third of cases are new
mutations. The disease gene is very large (2 Mb) and This is the second most common muscular dys-
encodes dystrophin, a sarcolemmal membrane trophy in Europe and acquired as an autosomal
protein. dominant trait. It is a multiorgan disorder affecting
Affected boys usually develop symptoms between muscle, endocrine system, cardiac function, immu-
2 and 4 years of age. Independent walking tends to nity and the central nervous system.
be delayed and affected children never run nor-
mally. Patients are wheelchair bound by 12 years of Clinical features
age and die from congestive heart failure or pneu- Hypotonia.
monia by 25 years of age. Progressive muscle wasting.
Typical facial features with an inverted
Clinical features V-shaped upper lip, thin cheeks and high
Associated clinical features include: arched palate.

149
Neurological disorders

Myotonia: a characteristic feature, usually Spinal muscular atrophies


seen beyond 5 years. This is a slow relaxation
of muscle after contarction and may be Spinal muscular atrophies (SMA) are progressive
demonstrated by asking the patient to degenerative diseases of motor neurons, that may
make tight sts and then to quickly open have its onset as early as foetal life. The more severe
the hands. forms present in early infancy with severe hypotonia
Arrhythmias, endocrine abnromalities, and weakness whereas the late onset forms present
cataracts and immunologic deciencies can later during childhood. These disorders are charac-
also occur. terised by hypotonia, generalized weakness and
absent or weak tendon reexes. Fasciculations seen
in the tongue, deltoids or biceps are characteristic
Diagnosis and indicate denervation of the muscle. Children
This is by DNA analysis to show the CTG repeat. with the severe early onset type rarely survive beyond
Serum CK is usually normal. 2 yrs while intermediate forms lead to severe motor
disability. Diagnosis is by muscle biopsy and iden-
Management tifying the genetic marker for the SMN gene. Treat-
Treatment is supportive. ment is supportive.

150
Musculoskeletal disorders 18
Objectives

At the end of this chapter, you should be able to


Know the clinical presentation of developmental dysplasia of the hip.
Understand the common causes of hip pain and limp in children.
Recognize common infections of the bone and joints.
Know the classication, clinical features and management of juvenile idiopathic
arthritis.

Breech or caesarean delivery.


DISORDERS OF THE HIP Family history.
AND KNEE Neuromuscular disorders.
Female sex.
Developmental dysplasia of Babies are screened at birth and at the 6-week check
the hip using the Barlow and Ortolani manoeuvres. With
This term has replaced the previous name of con- increasing age, contractures form and these tests are
genital dislocation of the hip. Perinatal hip instabil- then unhelpful. Warning signs might be:
ity results in progressive malformation of the hip Delayed walking.
joint; it occurs in 1.5 in 1000 births. A painless limp.
Developmental dysplasia of the hip (DDH) rep- A waddling gait.
resents a spectrum of hip instability ranging from a
dislocated hip to hips with various degrees of ace- Asymmetrical skin creases are found in 30% of all
tabular dysplasia (in which the femoral head is in infants and are an unreliable guide; 10% of all
position but the acetabulum is shallow). It was pre- babies have hip clicks and this is normal.
viously thought to be entirely congenital, but is now
known to also occur after birth in previously normal Diagnosis
hips. There are two types:
Typically, on examination there is limited abduc-
1. Typical, which affects normal infants. tion (a supine child should be able to abduct fully
2. Teratological, which occurs in neurological and the exed hip up until the age of 2 years). The femur
genetic conditions. Teratological DDH requires might be shortened (Allis sign). Ultrasound scan-
specialized management. ning is diagnostic. Hip X-rays are not useful until
after 45 months of age when the femoral head has
All babies are screened clinically but 40% will be
ossied (Fig. 18.1).
missed and the use of national ultrasound screening
remains controversial; 90% will spontaneously
resolve without treatment. Management

Clinical features
The cause is unknown but risk factors for DDH
Note that clinical examination will miss
include:
many hip dislocations and ultrasound of
Congenital muscular torticollis. high-risk babies is indicated.
Congenital foot abnormalities.

151
Musculoskeletal disorders

Fig. 18.1 X-ray of congenital dislocation of the right hip in


an older child. (Reproduced with permission from Crash
Fig. 18.2 Perthes disease. Increased density in the right
Course: Rheumatology and Orthopaedics, 2nd edn. by
femoral head, which is reduced in height.
Marsland, Kapoor, Coote and Haslam, Elsevier Mosby, 2008.)

This involves: 7 years). Pain, which might be intermittent, can be


felt in the hip, thigh or knee. Between 10 and 20%
Fixing the hip in abduction with a Pavlik or of cases are bilateral. Abduction and rotation is
Von Rosen harness. This is effective in children limited on examination.
under 8 months of age.
Important to note that the harness must be Diagnosis
adjusted every 2 weeks for growth and be kept
on at all times. Hip X-rays are diagnostic (Fig. 18.2). If there is
doubt then serial lms or MRI might be necessary.
For children in whom the diagnosis has been
delayed, open reduction and derotation femoral Management
osteotomy needs to be performed. In these cases,
accelerated degenerative changes might necessitate The prognosis in most children is good, especially
total hip replacement in early adult life. in those under 6 years of age or if less than half of
the femoral head is involved. In younger children
LeggCalvPerthes disease only analgesia and mild activity restriction with
bracing is needed.
This idiopathic disorder results in osteonecrosis of In older children, and those in whom more than
the femoral head prior to skeletal maturity. It results half of the epiphysis is involved, permanent defor-
in growth disturbance associated with temporary mity of the femoral head occurs in over 40%, result-
ischaemia of the upper femoral epiphysis. This leads ing in earlier degenerative arthritis. In severe disease,
to a cycle of avascular necrosis with attening and the hip needs to be xed in abduction allowing the
fragmentation of the femoral head. Revasculariza- femoral head to be covered and moulded by the
tion and reossication occurs with the resumption acetabulum as it grows. Plaster, callipers or femoral
of growth (which might not be normal); the whole or pelvic osteotomy may achieve xation.
cycle takes 34 years. Risk factors include:
A previous family history. Transient synovitis (irritable hip)
Male sex: it is ve times more common in boys. This common self-limiting condition occurs in chil-
The incidence is 1 in 2000. dren between 2 and 12 years of age often following
a viral infection. Typical features are:
Clinical features Sudden onset of hip pain.
There is an insidious onset of limp between the ages Limp.
of 3 and 12 years (the majority occur between 5 and Refusal to bear weight on the affected side.

152
Disorders of the spine 18

There is no pain at rest. Examination reveals limited Thirty per cent have a family history and 20% are
passive abduction and rotation in an otherwise well bilateral, although not necessarily synchronous.
and afebrile child. The critical differential diagnosis Diagnosis is by plain radiographs and unstable
is septic arthritis, in which the child is febrile, unwell hips are an orthopaedic emergency. Complications
with pain at rest and refusal to move the affected are avacsular necrosis and premature fusion of the
joint. epiphysis. Management is by pinning the femo-
ral head or osteotomy. Non-surgical treatment is
Diagnosis ineffective.
This is a diagnosis of exclusion and it is import-
ant to distinguish transient synovitis from septic
arthritis: DISORDERS OF THE SPINE
Acute-phase reactants: white blood cell count
(WBC), C-reactive protein (CRP) and
Back pain
erythrocyte sedimentation rate (ESR). Back pain is uncommon before adolescence. In
Blood cultures. infants and young children it is usually associated
with signicant pathology such as connective tissue
Hip X-ray does not enable differentiation and is
disorders. Referral is warranted.
therefore not useful. If there is doubt, antibiotics
In adolescence back pain may be caused by:
should be given and the joint aspirated for culture.
Muscle spasm or soft tissue pain: this is usually
a sports-related injury.
Scheuermanns disease: this is osteochondritis
(idiopathic avascular necrosis of an
ossication centre) of the lower thoracic
Irritable hip is a diagnosis of exclusion.
vertebrae causing localized pain, tenderness
Septic arthritis must always be
and kyphosis.
considered.
Spondylolysis and spondylolisthesis: there is a
defect in the pars interarticularis of (usually) L4
or L5 (spondylolysis). If there is anterior shift
Management of the vertebral bodygraded according to
severitythere is lower back pain exacerbated
Treatment is supportive (bed rest and analgesia)
by bending backwards (spondylolisthesis).
because the condition spontaneously resolves in 2
Vertebral osteomyelitis or discitis: this presents
weeks.
with severe pain on weight bearing and walking
associated with local tenderness.
Slipped upper femoral Tumours: these can be benign or malignant and
epiphysis (SUFE) might cause cord or root compression.
In this relatively uncommon condition of unknown Idiopathic: this is a diagnosis of exclusion but
aetiology, there is progressive posterior and medial pain might be exacerbated by stress and poor
translation of the femoral head on the femoral neck posture.
through the epiphysis. SUFE occurs during the ado-
lescent growth spurt and:
Is most common in boys (obese white or tall
thin black).
Is associated with delayed skeletal maturation Think of malignancy in bone pain.
and endocrine disorders. Suggestive features include:
Typically presents between 10 and 15 years of Non-articular bone pain.
age. Back pain.
Presents with limp or with hip or referred knee Pain out of proportion to swelling or at night.
pain.

153
Musculoskeletal disorders

Scoliosis scoliosis is monitored clinically, radiologically and


chronologically:
This is lateral curvature of the spine associated with
a rotational deformity and affects 4% of children. It Mild curves are not treated.
is classied according to cause: Moderate curves are braced (23 hours a day
until growing has stopped).
Vertebral abnormalities, e.g. hemivertebra, Severe curves (>40) require surgery that fuses
osteogenesis imperfecta. the spine and therefore terminates further
Neuromuscular, e.g. polio, cerebral palsy. growth. Untreated severe curves result in later
Miscellaneous, e.g. idiopathic (most common), degenerative changes, pain and unwanted
dysmorphic syndromes. cosmetic appearance.

Idiopathic scoliosis Torticollis


As well as lateral curvature, there is rotation of
Acute torticollis (wry neck) is a relatively common
the thoracic region, which can be demonstrated as
and self-limiting condition in young children, often
the child bends forwards and a rib hump is noted
associated with an upper respiratory tract infection.
(Fig. 18.3). More than 85% of cases occur in ado-
The most common cause of torticollis in infants
lescence. It is more common in girls and often there
is a sternomastoid tumour. A mobile non-tender
is a family history. Pain is not a typical feature. The
nodule within the sternomastoid muscle is noticed
in the rst few weeks of life. The cause is unknown.
It usually resolves by 1 year and is managed conser-
vatively by passive stretching. Surgery is reserved for
persistent cases.

BONE AND JOINT INFECTIONS

Osteomyelitis
Early recognition and aggressive treatment is essen-
tial for a favourable outcome in bone infections. The
infection is usually haematogenous in origin or
might be secondary to an infected wound. It typi-
cally starts in the metaphysis where there is relative
stasis of blood. Two-thirds of cases occur in the
femur and tibia. The peak incidence is bimodal,
occurring in the neonatal period and in older chil-
dren (911 years).
In all age groups, the most common pathogen is
Staphylococcus aureus, although group B streptococci
and E. coli occur in neonates.
Children with sickle-cell disease have increased
susceptibility to salmonella osteomyelitis. M. tuber-
culosis should also be considered.

Bacterial bone and joint infections:


Staphylococcus aureus is the most
Fig. 18.3 Idiopathic adolescent scoliosis showing vertebral common pathogen in all age groups.
rotation (rib hump) when bending forward.

154
Rheumatic disorders 18

Clinical features in all age groups. The organisms are similar to those
found in osteomyelitis and the conditions might
Infants present with fever and refusal to move the
occur together.
affected limb. Older children will localize the pain
and are also systemically unwell. Examination
reveals exquisite tenderness over the affected bone Clinical features
usually with warmth and erythema. Pain limits The typical presentation is a painful joint with:
movement.
Fever.
Irritability.
Diagnosis Refusal to bear weight.
The acute-phase reactants (WBC, CRP and ESR) are
Infants often hold the limb rigid (pseudoparalysis)
usually signicantly elevated. Blood cultures are
and cry if it is moved. There is tenderness and
positive in more than half of the cases and aspira-
a variable degree of warmth and swelling on
tion of the bone is therefore necessary to identify
examination.
the organism and its sensitivity. Bone scans are more
sensitive in the early phase of the illness (2448
hours) compared with X-rays, which tend to be
Investigation
normal in the rst 10 days. Periosteal elevation or The acute-phase reactants are usually elevated. Aspi-
radiolucent necrotic areas can usually be demon- ration of the joint space might reveal organisms and
strated between 2 and 3 weeks. the presence of white cells. The aspirate can then be
cultured.
Treatment Ultrasound can identify effusions but X-rays are
often initially normal or show a non-specic,
Early treatment with intravenous antibiotics is widened joint space.
imperative until there is clinical improvement and
normalizing of the acute-phase reactants. Several
Management
weeks of oral antibiotics follow. Failure to respond
to medical treatment is an indication for surgical Early and prolonged intravenous antibiotics are
drainage. necessary. Surgical drainage is indicated only if the
Complications include: infection is recurrent or if it affects the hip.

Chronic osteomyelitis.
Septic arthritis.
Growth disturbance and limb deformity RHEUMATIC DISORDERS
(occurs if the infection affects the epiphyseal
plate). These include:
Juvenile idiopathic arthritis (JIA).
Septic arthritis Dermatomyositis.
Systemic lupus erythematosus.
Purulent infection of a joint space is more common
than osteomyelitis and can result in bone destruc-
tion and considerable disability. The incidence is
Juvenile idiopathic arthritis
highest in children younger than 3 years of age and Juvenile idiopathic arthritis has replaced the term
is usually haematogenous in origin. Other causes juvenile chronic arthritis. It is diagnosed after
include: arthritis in one or more joints for 6 weeks after
excluding other causes in a child. It occurs in 1 : 1000
Osteomyelitis.
children. There are eight groups and three are dis-
Infected skin lesions.
cussed in detail below; classication is by mode of
Puncture wounds.
onset over the rst 6 months (Fig. 18.4). Blood
In infants, the hip is the most common site (the investigations for antinuclear antibodies (ANA) and
knee is the most common site in older children). rheumatoid factor (RF) are helpful in classication
Staphylococcus aureus is the most common pathogen but not diagnostic.

155
Musculoskeletal disorders

Fig. 18.4 Classication of juvenile


idiopathic arthritis. Classification of juvenile idiopathic arthritis

Systemic Polyarticular Oligoarticular

Number of joints Variable Greater than 4 4 or less


involved

Joints involved Knees Any joint Knees


Wrist Ankles
Ankle and tarsal Elbows
Hips spared

Pattern Symmetrical Symmetrical Asymmetrical

Rheumatoid factor Negative Positive or negative Negative

Eye involvement No No Yes in 30%

Clinical course Poor in one-third Good if rheumatoid Good


factor negative

Systemic (previously Stills disease) metric arthritis involving knees, ankle and elbows.
Antinuclear antibodies are nearly always present
This mainly affects children under 5 years. The
and one-third will develop chronic iridocyclitis
arthritis primarily affects the knees, wrist, ankles and
(inammation of the iris and ciliary body, which
tarsal bones. Other features include:
comprise the anterior uveal tract: anterior uveitis).
High daily spiking fever. The denition oligoarticular requires that the
A salmon-pink rash. disease affects four or fewer joints and it has a good
Lymphadenopathy and hepatosplenomegaly. prognosis but eye involvement is independent of
Arthralgia, malaise and myalgia. the joints. There is a subclass called extended oligo-
Inammation of pleura and serosal membranes. articular in which more than four joints are affected
after 6 months; this has a poorer prognosis.
There is often no arthritis at presentation. One-third
will have a progressive course and the worst prog-
nosis occurs in the younger age.

Polyarticular
Ophthalmological screening with a slit
Rheumatoid factor (RF) negative lamp to detect anterior uveitis is
This affects all ages and all joints but spares meta- especially important in children with
carpophalangeal joints (MCPs). Limitation of the oligoarticular JIA.
motion of the neck and temporomandibular joints
is seen. It has a good prognosis but disease may be
prolonged.
Diagnosis
Rheumatoid factor (RF) positive Useful tests for the evaluation of JIA include:
This mainly affects females over 8 years and causes
arthritis of the small joints of the hand and feet. Hip FBC: anaemia occurs in systemic disease.
and knee joints are affected early and rheumatoid Acute-phase reactants: elevated.
nodules are seen over pressure points. There might RF: negative in the majority.
be a systemic vasculitis; functional prognosis is ANA.
poor. X-rays: soft tissue swelling in early stages. Bony
erosion and loss of joint space later.
Oligoarticular Management
Early onset is the most common subtype and typi- A multidisciplinary team approach is required. This
cally occurs in young girls under 6 years with asym- will encompass:

156
Genetic skeletal dysplasias 18

Physiotherapy: to optimize joint mobility, There are four forms:


prevent deformity and increase muscle
Type I (the most common form) is an
strength.
autosomal dominant disorder. Affected children
Medication: pain control and suppression of
have recurrent fractures, blue sclerae and
inammation are provided by non-steroidal
conductive hearing loss.
anti-inammatory agents (NSAIDs),
Type II is a severe, lethal form with multiple
e.g. ibuprofen or aspirin. Systemic steroids are
fractures present before birth. Many affected
indicated for severe systemic disease or severe
infants are stillborn. Inheritance is usually
uveitis. The trend is towards early use of
autosomal recessive.
methotrexate, to reduce joint damage, and local
Type III causes severe bone fragility but the
steroid injections. Biologics, which target
sclera are not blue in later life. Survival to
specic parts of the inammatory pathway,
adulthood is uncommon. This is autosomal
have been used in severe cases.
recessive.
Type IV is mild with a variable age of onset and
only bone fragility without the other features of
GENETIC SKELETAL DYSPLASIAS type I.
Management is by aggressive orthopaedic treatment
Achondroplasia of fractures to correct deformities and genetic coun-
See Chapter 25. selling of the parents.

Osteogenesis imperfecta (brittle Further reading


bone disease) Kocher MS, Zurakowski D, Kasser JR. Differentiating
between septic arthritis and transient synovitis of the hip
Osteogenesis imperfecta is a heterogeneous group of in children: an evidence-based clinical prediction
disorders: algorithm. Journal of Bone and Joint Surgery 1999;
81(12):16621170.
Caused by mutations in type I collagen Petty RE, Southwood TR, Baum J et al. Revision of the
genes. proposed classication criteria for juvenile idiopathic
Characterized by fragile bones and frequent arthritis: Durban, 1997. Journal of Rheumatology 1998;
fractures. 25:19911994.

157
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Haematological disorders 19
Objectives

At the end of this chapter, you should be able to


Understand the normal development of the haematopoietic system.
Identify the common causes of anaemia.
Understand the clinical features and management of iron deciency anaemia.
Understand the common types of haemolytic anaemia.
Identify the common disorders affecting haemostasis.

These encompass defects in the cellular elements of Normal developmental changes


the blood or in those soluble elements involved in
in haemoglobin
haemostasis. Neoplastic diseases of the white cells
or lymphatic system are considered separately (see The haemoglobin (Hb) concentration and haema-
Chapter 20). The most common problem encoun- tocrit are relatively high in the term newborn infant
tered is iron deciency anaemia. because of the low oxygen tension prevailing in
Normal developmental variations are important utero. The wide range encountered, 1420 g/dL, is
in the interpretation of changes in the blood in accounted for by:
infancy and childhood. Variation in how rapidly the umbilical cord is
clamped.
The infants position after delivery.

HAEMATOPOIESIS If cord clamping is delayed and the baby is held


lower than its placenta, haemoglobin and blood
Early prenatal haematopoiesis occurs in the volume are both increased by a placental transfu-
liver, spleen and lymph nodes. It commences in sion. These values subsequently decline, reaching a
the bone marrow at about the fourth or fth month nadir at:
of gestation. At birth, haematopoietic activity is About 7 weeks in preterm infants.
present in most of the bones, especially long 23 months for term infants.
bones.
Cells in the peripheral blood have a relatively The lower limit of normal for this physiological
short life span. Continuous replenishment in mas- anaemia is 9.0 g/dL. During this period, there is
sive amounts from the bone marrow is required to erythroid hypoplasia of the marrow and a change
maintain adequate blood counts. from fetal to adult haemoglobin.

The haemoglobin concentration:


Is high at birth: 1420 g/dL.
Life span of peripheral blood cells: Falls to a nadir of 913 g/dl at 23
Red cells: 120 days. months in term infants.
Platelets: 10 days. HbF values decline postnatally to 2% of total at
Neutrophils: 67 hours. 912 months.

159
Haematological disorders

Term infants have adequate reserves for the rst


ANAEMIA 4 months of life.
Preterm infants have limited iron stores and
Anaemia is a decrease of the haemoglobin concen- because of their higher rate of growth, they
tration in the blood to below normal. Dietary iron outstrip their reserves by 8 weeks of age.
deciency is the most common cause but there are
many others. In clinical practice, anaemia can be Both breast milk and unmodied cows milk are
classied initially according to the red cell: low in iron concentration (0.050.10 mg/100 mL).
However, 50% of the iron is absorbed from breast
Colour intensity milk, in comparison to just 10% from cows milk.
(normochromic/hypochromic). Most formula milks are fortied with iron and
Size (microcytic/normocytic/macrocytic). contain 10 times the concentration in breast milk
Important causes based on this classication are (1.0 mg/100 mL); however, only 4% is absorbed.
shown in Fig. 19.1. Dietary sources of iron include red meat, fortied
breakfast cereals, dark green vegetables and bread.
Iron deciency anaemia (IDA) About 1015% of dietary iron is absorbed. Absorp-
tion is:
This is the commonest cause of anaemia in child-
hood. It usually results from inadequate dietary Enhanced by ascorbic acid (vitamin C).
intake rather than loss of iron through haemorrhage. Reduced by tannin in tea.
Iron requirements increase during adolescence,
Iron requirements especially for girls who lose iron through
The fetus absorbs iron from the mother across the menstruation.
placenta.

Classification and causes of anaemia

Microcytic, hypochromic anaemia Concerning iron in milk:


Defects of haem synthesis Breast and unmodied cows milk are
Iron deficiency
Chronic inflammation low in iron.
Defects of globin synthesis Iron is better absorbed from breast milk (50%)
Thalassaemia
Normocytic, normochromic anaemia
than cows milk (10%).
Haemolytic anaemias Formula milks are fortied with iron.
Intrinsic red cell defects
Membrane defects: Spherocytosis
Haemoglobinopathies: Sickle cell disease
Enzymopathies: G6PD deficiency
Extrinsic disorders
Immune-mediated: Rh incompatibility
Causes of iron deciency
Microangiopathy Nutritional deciency is common in certain at-risk
Hypersplenism
Haemorrhage (acute or chronic)
groups (Fig. 19.2). Malabsorption can be compli-
Hookworm infestation cated by iron deciency. Blood loss is a less common
Meckels diverticulum cause but might occur with:
Menstruation
Hypoproduction disorders
Menstruation.
Red cell aplasia, e.g. renal disease
Pancytopenia, e.g. marrow aplasia, leukaemia
Macrocytic anaemia
Hookworm infestation.
Repeated venesection in babies.
Bone marrow megaloblastic
Meckels diverticulum.
Vitamin B12 deficiency
Folic acid deficiency
Bone marrow not megaloblastic
Recurrent epistaxis.
Hypothyroidism
Clinical features
Fanconi anaemia

Mild iron deciency is asymptomatic. As it becomes


Fig. 19.1 Classication and causes of anaemia. more severe there might be:

160
Anaemia 19

Fig. 19.2 Dietary iron deciency.


Dietary iron deficiency

Infants Preterm infants require iron supplements from


68 weeks
Term infants will develop iron deficiency after
4 months if
Mixed feeding is unduly delayed
Unmodified cows milk is introduced early

Children Poor diet associated with low socio-economic


status or strict vegetarian diets

Irritability. another 3 months after the correction of anaemia to


Lethargy. allow replenishment of tissue iron stores.
Fatigue. Severe anaemia with cardiac decompensation
Anorexia. might require transfusion. Investigation for occult
gastrointestinal tract bleeding is indicated if there is
On examination, the only signs might be pallor of
a failure of response to treatment or recurrence
the skin and mucous membranes.
despite an adequate intake.
Severe anaemia can cause congestive cardiac
failure. IDA in infancy and early childhood is
associated with developmental delay and poor
growth, which is reversible by long-term oral iron
treatment.
Reference nutrient intakes of iron are:
6 months: 4 mg/day.
Diagnosis
12 months: 8 mg/day.
Diagnosis is conrmed by the blood count and lm, Adult male: 9 mg/day.
supplemented by investigations of iron status. Adult female: 15 mg/day.

Thalassaemias
While taking history in
suspected iron deciency The thalassaemias are a group of hereditary anae-
anaemia, it is important to mias caused by defects of globin chain synthesis.
take a detailed dietary history. They are classied into:
It is also important to advise parents about -thalassaemia: reduced synthesis of -globin
appropriate diet and give information regarding iron chains.
containing foods. The involvement of a dietitian is -thalassaemia: reduced synthesis -globin
often benecial. chains.
Mutations in the globin genes lead to a reduction or
absence of the corresponding globin chains. Excess
Management unpaired globin chains produce insoluble tetramers
Primary prevention in infants can be achieved by that precipitate causing membrane damage and
the: either:
Avoidance of unmodied cows milk. Cell death within the bone marrow (ineffective
Use of iron-supplemented formulae. erythropoiesis).
or
Mild to moderate anaemia is treated with dietary
counselling and oral iron using, for example, sodium Premature removal by the spleen (resulting in
iron edetate. Therapy should be continued for haemolytic anaemia).

161
Haematological disorders

b-thalassaemia centration above 10 g/dL. Unfortunately, chronic


transfusion therapy is complicated by accumulation
This occurs most frequently in people from the
of iron in parenchymal organs including the heart,
Mediterranean and Middle East. Over 150 million
liver, pancreas, gonads and skin.
people carry -thalassaemia mutations. There are
Chelation therapy with subcutaneous desferriox-
two main types:
amine, given regularly overnight, is used to promote
1. Homozygous -thalassaemia (-thalassaemia iron removal but negative iron balance is rarely
major, Cooleys anaemia). achieved. Many patients succumb to congestive
2. Heterozygous -thalassaemia (-thalassaemia heart failure due to cardiomyopathy in their second
minor, (-thalassaemia trait). or third decade.
Splenectomy is useful in selected patients and
b-thalassaemia major bone marrow transplantation can restore haemato-
poietic function. In the future, the developments of
There is usually a complete absence of -globin
bone marrow transplantation, oral chelating agents
chain production (genotype o/o), although some
and gene therapy hold promise.
mutations allow partial synthesis (genotype +/+);
haemoglobin A (HbA) cannot be synthesized.
Clinical features b-thalassaemia minor
Affected infants usually present at 6 months with
(b-thalassaemia trait)
severe haemolytic anaemia, jaundice, failure to
thrive and hepatosplenomegaly. If untreated, bone The only abnormality is a mild, hypochromic,
marrow hyperplasia occurs with development of the microcytic anaemia. Most are asymptomatic. -
classical facies: thalassaemia trait can be misdiagnosed as iron
deciency anaemia. The important diagnostic
Maxillary hypertrophy. feature is the raised HbA2 and about 50% have a
Skull bossing. mild elevation of HbF (13%) on electrophoresis.
Diagnosis
Haemoglobin electrophoresis reveals a markedly
reduced or absent HbA with increased haemoglobin a-thalassaemia
F (HbF) (3090%) (see Chapter 30).
This is caused by absence or reduced synthesis of
Treatment -globin genes. Most result from gene deletion. The
The mainstay of treatment is regular blood trans- manifestations and severity depend on the number
fusion, aiming to maintain the haemoglobin con- of genes deleted (Fig. 19.3).

Fig. 19.3 Clinical manifestations of


-thalassaemia variants. Clinical manifestations of -thalassaemia variants

Number of
Variant genes deleted Hb pattern Clinical features

-thalassaemia Four 4 (Hb Bart) Hydrops fetalis/


major death in utero

Haemoglobin H Three 4 (Hb H) Severe anaemia,


disease (beyond early persists through life
infancy)

-thalassaemia Two Normal Mild anaemia


minor

Silent carrier One Normal No anaemia


Normal RBC indices

162
Haemolytic anaemia 19

Diagnosis
Spherocytes are seen on peripheral blood lm.
Genetic counselling is important in all Diagnosis is conrmed by the osmotic fragility test
haemoglobinopathies. Folic acid (spherocytes already have maximum surface area to
supplements are usually given but iron volume and rupture more easily than biconcave red
supplementation should be avoided. cells in hypotonic solutions), though this is being
replaced by gel electrophoresis to identify the protein
defect or by molecular genetic studies

HAEMOLYTIC ANAEMIA Management


Mild disease requires no treatment other than folic
Haemolytic anaemia occurs when the life span of
acid to meet the increased demands of the marrow.
the red blood cell is shorter than the normal 120
Splenectomy is indicated for more severe disease,
days. Haemolytic anaemia can be caused by:
but should be deferred until school age because of
Intrinsic red cell defects, e.g. spherocytosis, the subsequent risk of overwhelming infection. The
sickle-cell disease, glucose-6-phosphate child should receive:
dehydrogenase (G6PD) deciency. Hib, meningococcal and pneumococcal
Extrinsic defects, e.g. Rhesus (Rh) vaccines before splenectomy.
incompatibility, microangiopathy and Prophylactic penicillin for life afterwards.
hypersplenism.
It is characterized by: Sickle-cell disease
Anaemia. This chronic haemolytic anaemia occurs in patients
Reticulocytosis. homozygous for a mutation in the -globin gene
Increased erythropoiesis in the bone marrow. (which causes substitution of valine for glutamine
Unconjugated hyperbilirubinaemia. in the sixth amino acid position of the -globin
chain). This causes a solubility problem in the deox-
Hereditary spherocytosis ygenated state: haemoglobin S (HbS) aggregates
into long polymers that distort the red cells into a
This is an autosomal dominant disorder caused by sickle shape.
abnormalities in spectrin, a major supporting com- The heterozygous state (sickle-cell trait) confers
ponent of the red blood cell membrane. About 25% resistance to falciparum malaria; this heterozygote
of cases are sporadic with no family history and are advantage explains the high incidence of the muta-
due to new mutations. As the name suggests the red tion in populations originating in malarious areas
cell shape is spherical and the life span is reduced such as tropical Africa, the Mediterranean, the
by early destruction in the spleen. Middle East and parts of India. Neonatal screening
by Guthrie test has been recently expanded to
Clinical features include sickle cell diease.
The clinical features are highly variable and include:
Mild anaemia: 911 g/dL.
Jaundice: hyperbilirubinaemia.
Splenomegaly: mild to moderate. Sickle-cell disease:
HbS differs from HbA by the
Complications substitution of valine for glutamine at
position 6 in the -globin chain.
These include:
HbS forms insoluble polymers in the
Aplastic crises secondary to parvovirus B19 deoxygenated state.
infection. The heterozygous state confers some protection
Gallstones: caused by increased bilirubin against malaria.
excretion.

163
Haematological disorders

Sickled red cells have a reduced life span and are The long-term consequences of sickle-cell disease
trapped in the microcirculation, causing ischaemia. include:

Clinical features Myocardial damage and heart failure.


The synthesis of HbF during the rst few months Aseptic necrosis of long bones.
affords protection until the age of 46 months. Pro- Leg ulcers.
gressive anaemia with jaundice and splenomegaly Gallstones.
then develops, and the infant might present with an Renal papillary necrosis.
episode of dactylitis or overwhelming infection. The
subsequent course of the disease is punctuated by Management
crises of which vaso-occlusive crises are by far the
most common. Antenatal and neonatal screening is available and
this allows initiation of antibiotic prophylaxis early
Vaso-occlusive crises in life. Prophylactic penicillin should be taken to
These episodes are often precipitated by infection, prevent pneumococcal infection. Daily folic acid
dehydration, chilling or vascular stasis. The clinical supplements help to meet the demands of increased
features depend on the tissue involved but episodes red cell breakdown. Pneumococcal and meningo-
most commonly manifest as a painful crisis, with coccal vaccine should be given as well as the stan-
pain in the long bones or spine. Cerebral or pulmo- dard course of Hib vaccine. Hydroxyurea reduces
nary infarction are less common but more serious. vaso-occlusive crisis and is currently under clinical
The latter might present as acute chest syndrome, trials.
which is characterized by: The treatment of a vaso-occlusive crisis includes:
Fever.
Crepitations. Analgesia: opioids for severe pain.
Chest pain. Oxygenation.
Pulmonary shadowing on chest X-ray arising Hyperhydration with IV uids.
from a combination of infarction and infection.
Exchange transfusion, designed to reduce the pro-
In infancy, patients with sickle-cell disease have a portion of sickle cells, is indicated for brain or lung
functional hyposplenism despite splenomegaly. infarction and priapism. Transfusion with packed
Repeated vaso-occlusive episodes lead to infarction red cells might be required if a sudden fall in hae-
and brosis so that the spleen is no longer palpable moglobin occurs during an aplastic sequestration or
from 5 years of age (so-called autosplenectomy). haemolytic crisis.
These patients are, therefore, at risk of overwhelm- Vasoocclusive crises can result in loss of function
ing infection with encapsulated organisms (Hae- of the limb or organ if not treated early. It is impor-
mophilus inuenzae, Streptococcus pneumoniae). There tant to give adequate information to parents about
is an increased risk of osteomyelitis due to Salmo- its symptoms and advise them to seek medical
nella and other organisms. advice early in such an event.

Sickle-cell trait
The heterozygote with sickle-cell trait (HbAS) is
The spleen in sickle-cell disease: asymptomatic unless subjected to hypoxic stress
In infancy, there is splenomegaly. (e.g. general anaesthesia). Sickle cells are not seen
Recurrent infarction and on peripheral smear and diagnosis requires a solu-
autosplenectomy causes the spleen to regress bility test (e.g. sodium metabisulfate slide test) or
and become impalpable after age 5 years. Hb electrophoresis. The trait is worth detecting to
Splenic hypofunction renders patients susceptible allow genetic counselling and precautions to be
to infections with encapsulated organisms. taken against hypoxaemia during ying and general
anaesthesia.

164
Bleeding disorders 19

Red cell enzyme deciencies


These include glucose-6-phosphate dehydrogenase
(G6PD) deciency and the much rarer pyruvate It is unlikely that inherited bleeding
kinase deciency. disorders are present if the child has had
a major haemostatic challenge, e.g. major surgery,
without complications.
G6PD deciency
This is an X-linked recessive disorder with variable
clinical severity. Over 100 million people are
affected worldwide, particularly in the Mediterra- Petechiae or purpura.
nean, Middle Eastern, Oriental and Afro-Caribbean Prolonged bleeding after dental extraction,
populations. G6PD-decient red cells do not gener- surgery or trauma.
ate enough glutathione to protect the cell from Recurrent bleeding into muscles
oxidant agents. Males are more severely affected but or joints.
females can manifest the phenotype.

Clinical features Disorders of blood vessels


G6PD deciency can manifest with: Injury to blood vessels provokes two responses that
limit bleeding:
Neonatal jaundice: worldwide it is the most
common cause of neonatal jaundice requiring Vasoconstriction.
exchange transfusion. Activation of platelets and coagulation factors
Haemolytic episode: induced by by subendothelial collagen.
infection, oxidant drugs or fava beans.
Rare inherited disorders include EhlersDanlos syn-
Intravascular haemolysis occurs with fever,
drome associated with excessive capillary fragility
malaise and the passage of dark urine
and hereditary haemorrhagic telangiectasia.
(haemoglobinuria).
Acquired disorders include vitamin C deciency
(scurvy) and HenochSchnlein purpura.
Pyruvate kinase deciency
This is an autosomal recessive condition and is HenochSchnlein purpura
characterized by infection associated (parvovirus) This is a multisystem vasculitis involving the small
haemolysis and tolerance of low haemoglobin blood vessels. It commonly follows an upper respi-
levels. Management by splenectomy is sometimes ratory tract infection or exposure to a drug or aller-
useful. gen, and is assumed to be immune-mediated with
IgA playing a major role.
It is more common in boys and 75% of affected
BLEEDING DISORDERS children are under 10 years old.
Clinical features
Normal haemostasis requires a complex interaction The condition affects skin, joints, gastrointestinal
between three factors: tract and kidneys. Clinical features are described in
Fig. 19.4.
Blood vessels.
Platelets (thrombocytes). Diagnosis and management
Coagulation factors. Diagnosis is clinical. Normal platelet count and
coagulation studies exclude other causes of
A bleeding diathesis can result from a deciency or purpura.
disorder of any of these elements. Clinical presenta- Treatment is symptomatic and supportive. Ste-
tion of a generalized bleeding diathesis might roids may be of benet in severe gastrointestinal
include: disease. The prognosis is excellent. Most children

165
Haematological disorders

Fig. 19.4 Clinical features of


HenochSchnlein purpura. Clinical features of Henoch-Schnlein purpura

Skin A purpuric rash typically affects the legs and buttocks

GI tract Colicky abdominal pain accompanied by gross or occult bleeding


intussusception may occur

Joints Pain and swelling of the large joints, e.g. knees and ankles

Kidneys Glomerulonephritis manifested by microscopic haematuria


rarely severe and progressive

Clinical features
Causes of thrombocytopenia
ITP mainly affects children between 2 and 10 years
Decreased production
of age. Presentation is with purpura and supercial
Bone marrow failure bleeding, which might be accompanied by bleeding
Aplastic anaemia from mucosal surfaces, e.g. epistaxis. The spleen is
Leukaemia
WiskottAldrich syndrome palpable in a minority of cases.
Reduced survival
Immune-mediated thrombocytopenia Diagnosis
Idiopathic thrombocytopenic purpura (most common)
Secondary to viral infection, drugs
Hypersplenism
The differential diagnosis includes:

Giant haemangioma Acute leukaemia.


Disseminated intravascular coagulation Non-accidental injury.
HenochSchnlein purpura.
Fig. 19.5 Causes of thrombocytopenia.
A full blood count reveals thrombocytopenia but
no pancytopenia. Bone marrow aspiration to ex-
clude marrow inltration, or aplasia, is advocated
recover within 46 weeks, although, rarely, chronic
by some. This should be done if there is doubt about
renal disease can develop.
the diagnosis or steroid therapy is contemplated
(see below). An increase in megakaryocytes (platelet
Disorders of platelets
precursors) is characteristic.
These might be quantitative or qualitative, with the
former (thrombocytopenia) being most common. Treatment
In most children, the disease is acute, benign, and
Thrombocytopenia self-limiting, and no therapy is required. Even plate-
let levels <10 109 are well tolerated. Serious bleed-
A decreased number of platelets (from the normal
ing is extremely rare as the platelets function more
count of 150450 109/L) is the most common
efciently. Platelet infusions are rapidly destroyed
cause of abnormal bleeding. Purpura usually occurs
and have no role except in life-threatening emergen-
when the count is below 20 109/L. The cause
cies. Intravenous gammaglobulin infusions cause a
might be decreased platelet production or reduced
rise in the platelet count and might be indicated in
platelet survival (Fig. 19.5).
severe disease.
A short course of oral steroids is an alternative.
Idiopathic thrombocytopenic
These act by reducing capillary fragility and inhibit-
purpura (ITP) ing platelet destruction. Bone marrow should be
This is the most common cause of thrombocytope- examined to exclude leukaemia before starting
nia in childhood and refers to an immune-mediated steroids.
thrombocytopenia for which an exogenous cause is Teenage girls have a higher risk of chronic disease
not apparent. The platelets are destroyed within the (greater than 1 year) and splenectomy might have
reticuloendothelial system, mainly in the spleen. to be used if medical therapy fails.

166
Coagulation disorders 19

repeated haemorrhage might result in chronic joint


COAGULATION DISORDERS disease. Life-threatening internal haemorrhage (e.g.
intracranial) can follow trauma.
Haemophilia A and B and von Willebrand disease
account for the majority of inherited coagulation
Diagnosis
disorders.
Diagnostic evaluation reveals a prolonged activated
Haemophilia A (factor partial thromboplastin time (APTT), indicating a
defect in the intrinsic pathway; factor VIII assay con-
VIII deciency)
rms the diagnosis.
This is an X-linked recessive disorder due to reduced
or absent factor VIII. The incidence is 1 in 5000 Management
10 000 males. It is the result of a new mutation in
one third of cases. The factor VIII molecule is a Bleeding is treated by replacement of the missing
complex of two proteins: clotting factor with intravenous infusion of factor
VIII concentrate. The amount required depends on
VIII : C: small molecular weight unit, the site and severity of the bleed. Prompt and ade-
antihaemophiliac factor. quate therapy is important to avoid chronic arthrop-
VIII : R: large molecular weight unit, von athy; home therapy can avoid delay and minimize
Willebrand factor. inconvenience.
Recombinant DNA technology is now used to
Clinical features produce factor VIII that is safer than the blood prod-
Haemophilia A results from deciency of VIII : C. ucts previously used. In the past, infection with
Clinical severity varies greatly and depends on the hepatitis B and C, and with HIV, occurred from
factor VIII levels (Fig. 19.6). The characteristic clini- contaminated blood products. Antibodies to factor
cal feature is spontaneous or traumatic bleeding, VIII can develop.
which can be: Mild haemophilia can be managed with infusion
of desmopressin that releases factor VIII from tissue
Subcutaneous. stores.
Intramuscular.
Intra-articular. Haemophilia B (factor IX
Mild haemophilia might remain undetected until deciency, Christmas disease)
excessive bleeding occurs, e.g. after dental extrac-
This is an X-linked recessive disorder caused by de-
tion. Even severely affected boys often have few
ciency of factor IX. It is clinically similar to haemo-
problems in the rst year of life (unless circumcision
philia A, but much less common. Investigation
is performed) but early bruising and abnormal
reveals a prolonged APTT and reduced factor IX
bleeding is noted from the time they begin to walk
activity. Treatment is with prothrombin complex
and fall over.
concentrate.
In later life, recurrent soft tissue, muscle and joint
bleeding are the main problems. Haemarthroses
von Willebrand disease
cause pain and swelling of the affected joint and
This is due to a deciency of von Willebrand factor
(VWF; VIII : R), which has two major roles:
Carrier protein for factor VIII : C (preventing it
Factor VIII levels in haemophilia A
from breakdown).
Mild 525% of normal
Facilitates platelet adhesion.

Moderate 14% of normal Around 1% of the population is known to be


affected. Inheritance is usually autosomal dominant
Severe No detectable factor VIII activity
with variable penetrance. The clinical hallmark is
bleeding into the skin and mucous membranes
Fig. 19.6 Factor VIII levels in haemophilia A. (gums and nose).

167
Haematological disorders

Disseminated intravascular Hypobrinogenaemia.


Elevated brinogen degradation products.
coagulation (DIC)
Intravascular activation of the coagulation cascade Supportive treatment includes treating the underly-
may be secondary to various disease processes: ing cause and replacement of platelets and fresh
frozen plasma.
Damage to vascular endothelium: sepsis, renal
disease.
Thromboplastic substances in the circulation, THROMBOTIC DISORDERS
e.g. in acute leukaemia.
Impaired clearance of activated clotting factors,
IN CHILDHOOD
e.g. in liver disease.
Recognition of thrombotic disorders in children is
There is brin deposition in small blood vessels increasing. Although thrombosis is usually rare in
with tissue ischaemia, consumption of labile clot- children, certain genetic conditions predispose
ting factors and activation of the brinolytic to it:
system.
Factor V Leiden: caused by an abnormal factor
V protein that is resistant to activated protein C.
Clinical features
Protein C deciency: protein C inactivates the
Clinical features are: activated forms of factor V and VIII and
A diffuse bleeding diathesis, with oozing from stimulates brinolysis.
venepuncture sites. Protein S deciency: protein S is a cofactor to
Bleeding from the lungs. protein C.
Bleeding from the gastrointestinal tract. Antithrombin III deciency.

Diagnosis and treatment


Investigations reveal:
Prolonged prothrombin type (INR), activated Thromboembolic diseases are rare in
partial thromboplastin time (APTT) and children because thrombin is inhibited
thrombin time (TT). more than it is in adults and is generated
Thrombocytopenia and microangiopathic red less readily.
cell morphology.

168
Malignant disease 20
Objectives

At the end of this chapter, you should be able to


Understand the aetiology of childhood malignancy.
Understand the types, clinical features and outline the management of childhood
leukaemias.
Outline the common types of brain tumours.
Understand some of the commmon soft tissue tumours of childhood.

Cancer in childhood is uncommon. Approximately Genetic causes of childhood cancer


1 out of 600 children between the ages of 1 and 15
During periods of rapid proliferation, a normal cell
years will develop cancer. Despite the dramatic
may undergo a genetic alteration that transforms it
increases in survival rate due to new treatments, it
into a malignant cell. Two important mechanisms
remains an important cause of death in childhood.
of transformation are:
The spectrum of cancer in childhood is very differ-
ent from that in adults (Fig. 20.1). Leukaemia Activation of oncogenes.
accounts for over one-third of cases. Loss of tumour suppressor genes.
The aetiology, clinical features, investigation and
Examples of childhood cancer with an identiable
management of malignant disease in childhood are
genetic aetiology are shown in Fig. 20.2.
considered below, before the individual diseases are
described.
Infections
Aetiology Two viruses that infect the cells of the human
immune system are associated with malignancy:
Most childhood cancers are of uncertain cause and
occur sporadically in otherwise healthy children. EpsteinBarr virus: the virus transforms human
Risk is increased by a combination of: B cells. If not limited by an effective immune
response, a translocation disrupts the c-myc
Genetic predisposition: genetic factors are often oncogene on chromosome 8 leading to
more evident in childhood than adult malignant change, e.g. Burkitts lymphoma.
malignancy. Human immunodeciency virus (HIV): this
Environmental factors. retrovirus targets the human helper T cells.
Malignant cells proliferate and develop abnormally Children who develop AIDS are susceptible to
because they have escaped normal control mecha- lymphoid malignancies.
nisms. In younger children in particular, the malig-
nant cells might be immature precursor cells that Environmental
fail to mature into normal, differentiated functional Carcinogens and toxins are less often a cause of
cells. childhood cancer. One important risk factor, sadly,
Important causative factors in childhood malig- is previous treatment of malignancy in a child.
nancy include:
Genetic.
Clinical features
Infections. Cancer in childhood presents in a limited number
Environmental. of ways, some of which are non-specic (Fig. 20.3).

169
Malignant disease

Relative frequencies of childhood cancer


Investigations
Histological conrmation is the cornerstone of
Type % childhood cancer diagnosis. This is provided by biopsy (although
Leukaemia 35 initial biopsy is not possible at some sites, e.g. brain
CNS tumours 23 tumours) or bone marrow aspiration.
Lymphomas 12
Wilms tumour 7 Imaging is a vital aid and all modalities can be
Neuroblastoma 7 useful: ultrasound, X-ray, computed tomography
Bone tumours 6
Other 10
(CT) and magnetic resonance imaging (MRI) scans.
Tumour markers are useful in certain tumours, e.g.
Fig. 20.1 Relative frequencies of childhood cancer. -fetoprotein in liver tumours, urinary catechol-
amines in neuroblastoma.

Genetic childhood cancer syndromes


Management
The main therapeutic strategies available are:
Genetic cancer syndromes Gene defect

Retinoblastoma Chromosome 13-deletion of


Surgery: required for biopsy, total or partial
tumour suppressor gene removal of solid tumours (debulking), or for
removal of residual disease after chemotherapy
Li-Fraumeni p53 mutation
or radiotherapy.
Ataxia-telangiectasia DNA repair defect Radiotherapy: has an important role in specic
Down syndrome Trisomy 21 circumstances, e.g. brain tumours.
Chemotherapy: has a prominent role. A
Fig. 20.2 Genetic childhood cancer syndromes. number of highly effective antineoplastic
agents have been developed in the last four
decades. Their use is based on a number of
Childhood cancer-clinical features at presentation principles (see Hints & Tips). Most children
are enrolled into clinical trials on
Clinical feature Type of cancer diagnosis.
Constitutional symptoms: Lymphomas
fever, weight loss, night sweats Chemotherapy may be used as:
A localized mass in: Primary therapy for disseminated malignancy,
Abdomen Wilms tumour, neuroblastoma
e.g. the leukaemias.
Thorax Non-Hodgkin lymphoma
Soft tissue Rhabdomyosarcomas To shrink bulky primary or metastatic disease
Lymph node enlargement Lymphomas
before local treatment.
Adjunctive treatment for micrometastases.
Bone marrow failure Acute leukaemia

Bone pain Leukaemia, bone tumours


Bone marrow toxicity is the limiting factor for many
therapeutic regimens. This can be circumvented
Signs of raised ICP Primary CNS tumours by using bone marrow transplantation to rescue
patients after administering potentially lethal, but
Fig. 20.3 Childhood cancerclinical features at potentially curative, doses of chemotherapy or
presentation. radiation.

Classication systems employ numerical staging Supportive care


for solid tumours based on the extent of
Treatment produces many predictable and often
dissemination:
severe side effects in many systems. Supportive care
Stage I: localized. is a vital part of treatment (Fig. 20.4). Indwelling
Stages II and III: advanced, localized disease. central venous catheters allow pain-free blood sam-
Stage IV: disseminated disease with metastases. pling and injections.

170
The leukaemias 20

Fig. 20.4 Supportive care in the


Supportive care in the treatment of cancer treatment of cancer.

Infection Risk of opportunistic infection from immunosuppression

Anaemia and thrombocytopenia Blood and platelet transfusions

Nausea and vomiting Antiemetics and steroids

Pain control Use of appropriate analgesia

Long-term vascular access Surgically implanted venous access

Long-term problems in survivors of childhood cancer

Psychosocial support is very


Secondary tumours Leukaemia and lymphoma
important. Diagnosis of a
potentially fatal illness Reduced fertility From alkylating chemotherapy
provokes enormous anxiety, Cognitive and psychosocial Associated with methotrexate,
guilt, fear and sadness. Children and their siblings difficulties school absence
need an explanation of the illness tailored to their Reduced growth and From irradiated glands
age. The severe stress might give rise to relationship endocrine problems
problems between the parents and behavioural
Auditory From platinum-containing drugs
difculties in siblings. Help with practical difculties Cardiac From doxorubicin
such as transport and nances might be required. Fig. 20.5 Long-term problems in survivors of childhood
Help from the community nursing team is very cancer.
important.

THE LEUKAEMIAS

Leukaemia is a disease characterized by proliferation


For some children, a time comes when further of immature white cells and is the most common
treatment represents postponement of inevitable malignancy of childhood. Acute leukaemias account
death rather than prolongation of life. A denite for the majority (97%) of cases. Note that chronic
decision to concentrate on palliative care is then myeloid leukaemia is rare and that chronic lympho-
appropriate. For survivors, long-term follow-up is cytic leukaemia is conned to adults. The malignant
required to detect and manage long-term sequelae cells are termed blasts.
(Fig. 20.5). The leukaemias are classied according to the
white blood cell line involved:
Acute lymphocytic (lymphoblastic) leukaemia
(ALL): cells of lymphoid lineage.
Acute myeloid leukaemia: cells of granulocytic
Chemotherapy in childhood cancer: or monocytic lineage.
Chemotherapy is most likely to effect
It is of note that prognosis continues to improve
a cure when the malignant cell
with reductions in treatment related mortality and
burden is small.
matching of therapies to different prognostic
Adverse effects are produced on rapidly dividing
groups.
normal cells, e.g. those of the bone marrow,
gastrointestinal tract, and hair follicles.
Most children with leukaemia are enrolled into
Clinical features
clinical trials. In most children with acute leukaemia, there is an
insidious onset of symptoms and signs arising from

171
Malignant disease

inltration of the bone marrow or other organs with


Prognostic groups in acute lymphocytic leukaemia
leukaemic blast cells. Most will have one or more of
the following: Factors Good >70% cure Poor <60% cure
(all factors required) (any factor sufficient)
Pallor and malaise: anaemia.
Haemorrhagic diathesis: purpura, easy bruising, Age 29 years <1 year
epistaxis due to thrombocytopenia. WBC <50 109 g/L >50 109 g/L
Hepatosplenomegaly, lymphadenopathy:
reticuloendothelial cell inltration. Lineage Non-T, non-B cell T cell or B cell

Bone pain: due to expansion of marrow cavity. Fig. 20.6 Prognostic groups in acute lymphocytic leukaemia.
Infection: due to neutropenia.

Investigations
Clinical features
Peripheral blood investigations reveal:
Prognosis and clinical presentation varies with
Anaemia: normocytic, normochromic. subtype. T cell ALL tends to occur in older children
Thrombocytopenia. and teenagers, with a high peripheral white cell
Neutropenia: total WBC might be low, normal count and mediastinal mass. The prognosis is related
or high. to tumour load and can be dened according to
Blast cells. certain clinical and laboratory features (Fig. 20.6).
Bone marrow examination reveals replacement of
normal elements by leukaemic cells. Management
Overall, at least 65% of patients with ALL can now
expect to be cured. Children with null cell (common)
ALL have the best prognosis:
75% will go into remission.
A diagnosis of leukaemia should always 75% survive beyond 5 years.
be conrmed by bone marrow
A typical treatment regimen can be divided into six
aspiration.
phases:
1. Induction: an intensive regimen of between
three and ve drugs with the aim of reducing
Acute lymphocytic tumour load.
2. Early CNS-directed therapy.
leukaemia (ALL) 3. Consolidation: continued systemic therapy after
This accounts for 80% of childhood leukaemia and remission.
has a peak incidence between age 3 and 6 years. It 4. CNS prophylaxis without irradiation.
is slightly more common in boys than girls. Lym- 5. Intensication of therapy depending on risk of
phoblasts in these children do not successfully com- relapse.
plete the rearrangement of immunoglobulin and T 6. Maintenance: chemotherapy continues for 2
cell receptor genes necessary for full maturation. years from diagnosis.
Coupled with genetic alterations, which permit
Initial preparation involves:
them to survive and proliferate, the lymphoblasts
remain frozen at an early stage of development. Blood transfusion.
ALL can be classied according to cell-surface Treatment of infection.
antigens (immunophenotype) into: Allopurinol to protect the kidneys against the
effects of rapid cell lysis.
Non-T, non-B cell (common) ALL: 80% are
mostly early B cell clone. Relapses can occur in bone marrow, CNS or testes.
T cell ALL: 15%. The prognosis in these cases is poor and high-dose
B cell ALL: 1%. chemotherapy with total body irradiation and bone

172
Brain tumours 20

marrow transplantation might be necessary for sur- Treatment


vival. In ALL, bone marrow transplant is used only
Chemotherapy is the mainstay of treatment but
for high-risk groups because the benets are coun-
extensive surgical debulking might be required for
terbalanced by the risks of transplant-related
abdominal tumours. Localized disease has a 90%
mortality.
survival at 5 years. Complications in the acute setting
are superior vena cava syndrome and tumour lysis
Acute myeloid leukaemia syndrome.
This is classied into seven subtypes; 80% are asso-
ciated with chromosomal abnormalities and the Hodgkins disease
treatment is more intensive than ALL and carries a This is characterized histologically by the Reed
worse prognosis. Treatment approach is similar to Sternberg cell. It is relatively uncommon in prepu-
that of ALL. Bone marrow transplant is used in high- bertal children and usually presents in adolescence
risk groups only because of the mortality associated or young adulthood, with a slight preponderance in
with the procedure and because studies in good- females.
and intermediate-risk groups have shown no overall
benet.
Clinical features
The usual presentation is with painless cervical or
supraclavicular lymphadenopathy. Systemic symp-
LYMPHOMAS toms are uncommon. Metastatic disease occurs in
the lungs, liver and bone marrow.
These can be classied into:
Non-Hodgkins lymphoma (NHL): more Diagnosis
common in young children. Diagnosis is conrmed by histological examination
Hodgkins disease: more common in of a lymph node biopsy. Classication based on
adolescents and young adults. histopathology identies four subtypes of different
prognosis:
Non-Hodgkins lymphoma (NHL) 1. Lymphocyte predominance: best prognosis.
NHLs are a heterogeneous group of lymphomas 2. Mixed cellularity.
with different characteristics and cells of origin. 3. Nodular sclerosing: most common in children
NHL causes 7% of all childhood cancer and 100 and adolescents.
cases per year are seen in the UK. They can develop 4. Lymphocyte depletion: least common, worst
in immunocompromised children with HIV infec- prognosis.
tion, severe combined immunodeciency or other
severe inherited immunodeciencies. Treatment
The disease is staged, to determine treatment, using
Clinical features imaging of chest, mediastinum and abdomen.
NHLs tend to be aggressive and rapidly growing, (Staging laparotomy is no longer performed in
and might present with: the UK.) Treatment is combination chemotherapy
for all except patients with localized disease, who
Peripheral lymph node enlargement: usually B can be treated with radiotherapy. The overall prog-
cell origin. nosis is good and 80% of patients are cured
Intrathoracic mass: usually T cell origin. overall.
Mediastinal mass or pleural effusion.
Abdominal mass: usually advanced B cell
disease.
BRAIN TUMOURS
Gut or lymph node masses.
Subtypes of ALL and NHL might represent a con- Brain tumours are the second most common form
tinuation of the same disease. of childhood cancer and the most common solid

173
Malignant disease

tumour of childhood. Most are located infratentori- Astrocytomas (40%)


ally and present with signs and symptoms of raised
intracranial pressure and cerebellar dysfunction. Cerebellar astrocytomas are usually low-grade, slow-
Metastasis is rare and diagnosis is often difcult and growing, cystic gliomas occurring between the ages
delayed. of 6 and 9 years. Presentation might be with:
Headache and vomiting: caused by obstructive
hydrocephalus; papilloedema might be present.
Cerebellar signs: ataxia, nystagmus and
uncoordination.
Brain tumours are the most common Diplopia, squint: sixth nerve palsy.
solid tumour of children. Two-thirds arise Supratentorial astrocytomas and gliomas are less
below the tentorium. common and present with focal neurological signs
and seizures.
Brainstem gliomas (6%) present with cranial
nerve palsies, ataxia and pyramidal tract signs.
A classication based on histology is shown in Diagnosis is usually based on clinical ndings
Fig. 20.7. An example of a posterior fossa tumour and MR imaging as biopsy is hazardous. Prognosis
with hydrocephalus is shown in Fig. 20.8. is poor, with median survival less than 1 year after
diagnosis despite radiotherapy.

Classification of brain tumours in childhood Primitive neuroectodermal


tumours (medulloblastomas)
Astrocytic tumours
High-grade astrocytomas (20%)
Supratentorial
Low-grade astrocytomas These are the most common malignant brain
Cerebellar
Brainstem gliomas
tumours of childhood, with a peak incidence
Neuroepithelial tumours
between the ages of 2 and 6 years, and a preponder-
Primitive neuroectodermal tumours (PNET) ance in boys. They usually arise in the midline and
(includes cerebellar medulloblastoma) invade the fourth ventricle and cerebellar hemi-
spheres. Unlike other CNS tumours they seed
Fig. 20.7 Classication of brain tumours in childhood.
through the CNS and up to 20% have spinal metas-
tases at diagnosis.
Presentation is usually with headache, vomiting
and ataxia.
Treatment is surgical removal and whole CNS
irradiation (5-year survival rates are 50%). Adjuvant
chemotherapy may be added for children with
higher than average risk of recurrence.

Craniopharyngioma (4%)
These arise from the squamous remnant of Rathkes
pouch and are locally invasive. They present with:
Visual eld loss: due to compression of the
optic chiasm.
Pituitary dysfunction: growth failure, diabetes
insipidus.
Fig. 20.8 CT of an enhancing posterior fossa tumour (black
arrows) with hydrocephalus demonstrated by dilated Most are calcied and are visible on skull radio-
temporal horns (white arrows). graphs. Treatment is surgical excision and/or radio-

174
Wilms tumour (nephroblastoma) 20

therapy. Prognosis is good but sequelae include Surgical resection.


visual impairment and endocrine deciency. Chemotherapy.
Irradiation.

NEUROBLASTOMA Prognosis is worse for older children and those with


metastatic disease. Overexpression of the N-myc
Neuroblastoma is a malignancy of neural crest cells oncogene in tumour material is associated with a
that normally give rise to the paraspinal sympathetic poor prognosis.
ganglia and the adrenal medulla. It is the second
most common solid tumour of childhood, occur-
ring predominantly in infants and preschool chil- WILMS TUMOUR
dren with a median age at diagnosis of 2 years. It is (NEPHROBLASTOMA)
unusual in that it can regress spontaneously in very
young children (stage IV-S). Wilms tumour arises from embryonal renal cells of
the metanephros. It is predominantly a tumour of
Clinical features the rst 5 years of life with a median age of presenta-
The clinical features depend on the location and tion of 3 years of age. Sporadic and familial forms
may include: occur. Most tumours are unilateral.

Abdominal mass: a rm, non-tender abdominal Clinical features


mass is the most common mode of
The most common clinical presentation is an asymp-
presentation.
tomatic abdominal mass that does not cross the
Systemic signs: pallor, weight loss, bone pain
midline. Other features may include:
from disseminated disease.
Hepatomegaly or lymph node enlargement. Abdominal pain: due to haemorrhage into the
Unilateral proptosis: periorbital swelling and tumour.
ecchymosis from metastasis to the eye. Haematuria.
Opsoclonus-myoclonus: dancing-eye syndrome Hypertension: in 25% of cases. This can be
caused by an immune response. caused by compression of the renal artery or
Watery diarrhoea due to secretion of vasoactive renin production by tumour cells.
intestinal peptide.
A Wilms tumour susceptibility gene has been rec-
Extra-abdominal tumours are often well on
ognized from the rare association of Wilms tumour,
presentation.
sporadic aniridia and deletions of part of chromo-
Mediastinal mass on CXR.
some 11. Associated abnormalities found in some
children include:
Diagnosis
Diagnosis is usually made from the characteristic Hemihypertrophy.
clinical and radiological features: Genitourinary tract abnormalities.
Mental retardation.
Raised urinary catecholamines Aniridia.
(vanillylmandelic acid, homovanillic acid) are
useful in diagnosis and monitoring response to
therapy.
Conrmatory biopsy is usually possible and
Wilms tumour:
scanning using MIBG (meta-iodobenzyl
Arises from embryonic renal cells.
guanidine), a radiolabelled tumour-specic
Usually presents as an abdominal
agent, is useful to measure disease extent.
mass in a child under 5 years old.
Is bilateral in 5% of cases.
Treatment Is associated with aniridia (absent iris).
Treatment of neuroblastoma includes:

175
Malignant disease

Osteogenic sarcoma: older children, most


common.
Ewings sarcoma: younger children, less
common.

Osteogenic sarcoma
This is a malignant tumour of the bone-producing
mesenchyme and is twice as common in males as
females.

Clinical features
The usual presenting feature is local pain and
swelling. Persistent bone pain precedes the detec-
Fig. 20.9 CT scan of nephroblastoma. Wilms tumour mass tion of a mass. Half of all cases occur around
arising out of right kidney (white arrows) displacing the
the knee joint in the metaphysis of the distal femur
inferior vena cava (black arrow).
or proximal tibia. Systemic symptoms are rare.
Metastases are mainly to the lungs and are often
asymptomatic.

Diagnosis Diagnosis
Diagnosis is normally made from the characteristic Bone X-ray shows destruction and a characteristic
appearance on CT (Fig. 20.9), which shows an sunburst appearance as the tumour breaks through
intrinsic renal mass with mixed solid and cystic den- the cortex and spicules of new bone are formed.
sities, and from biopsy. A search for distant metas-
tases, which are most common in lungs and liver, Treatment
should be made.
Treatment involves surgery of primary and meta-
Treatment static deposits. En bloc resection might allow
amputation to be avoided. Aggressive neoadjuvant
Treatment involves surgical resection of the primary chemotherapy is important to treat micrometastatic
tumour, chemotherapy tailored to the stage and his- disease. Survival has improved and is greater than
tology, and radiotherapy for those with advanced 50%.
disease. Overall, the prognosis is good, with an 80%
chance of cure if there is no metastasis, although this
Ewings sarcoma
falls to 30% if metastases are present.
This is less common than osteogenic sarcoma and
is very rare in Afro-Caribbean children. It is an
SOFT TISSUE SARCOMAS undifferentiated sarcoma of uncertain tissue of
origin that arises primarily in bone, but occasionally
These arise from primitive mesenchyme. The most in soft tissues.
important is rhabdomyosarcoma, but even rarer It most commonly affects the long bones, espe-
forms include brosarcomas and liposarcomas. cially the mid- to proximal femur, but can also affect
at bones such as the pelvis.

BONE TUMOURS Clinical features and diagnosis


Pain and localized swelling are the usual presenting
Primary malignant bone tumours account for 4% of complaints. X-ray demonstrates a destructive lesion
childhood cancer. They are uncommon before with periosteal elevation or a soft tissue mass (so
puberty and are most common in adolescents with called onion skin appearance). Metastases occur to
a preponderence in boys. The two main types are: the lungs and other bones.

176
Langerhans cell histiocytosis 20

Treatment
LANGERHANS CELL
Radiotherapy to the primary tumour is combined
HISTIOCYTOSIS
with chemotherapy for the prevention or treatment
of metastases.
Formerly called histiocytosis X, this term encom-
passes a group of relatively rare diseases charac-
terized by the clonal proliferation of Langerhans
cells (components of the bone-marrow-derived
Bone tumours:
mononuclear phagocytic system). It is not now
Are most common in adolescence.
considered a true malignancy but the poten-
Are more common in boys.
tially aggressive course and response to chemo-
Most commonly affect the long bones.
therapy brings it within this sphere of clinical
practice.
Retinoblastoma
This is a cause of an absent red reex in the neonate. Further reading
It is associated with deletion of a tumour suppressor Will A. Recent advances in the management of leukaemia.
gene on chromosome 13 and is bilateral in 40%. Current Paediatrics 2003; 13:201216.

177
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Endocrine and 21
metabolic disorders
Objectives

At the end of this chapter you should be able to


Understand the pathophysiology and management of diabetes.
Know the different types of insulin used in diabetes.
Understand the common thyroid disorders in childhood.
Recognize and know the basic principles of managing a child with congenital
adrenal hyperplasia.
Have a general understanding of common inborn errors of metabolism.

Ketoacidosis develops when insulin deciency


DISORDERS OF is severe.
CARBOHYDRATE METABOLISM
Clinical features
Diabetes mellitus Although type 1 diabetes can present at any age,
This is a heterogeneous group of disorders, charac- the most common age of onset is between 7 and 15
terized by hyperglycaemia and caused by reduced or years of age. Increasingly, type 1 diabetes is diag-
absent insulin secretion or action. Type 1 diabetes nosed at an early stage, when the principal features
(formerly called insulin-dependent diabetes) is the are:
most common form of childhood diabetes, although Polyuria: increased frequency of urination
other varieties might be encountered. Type 2 diabe- (possibly enuresis).
tes is characterized by insulin resistance and its Polydipsia: increased thirst.
increasing incidence has been associated with child- Weight loss.
hood obesity; however, the discussion below refers
to type 1.

Aetiology
There is good evidence that type 1 diabetes results
from T-cell-mediated autoimmune destruction of Always check for glycosuria in a child
cells in the pancreatic islets of Langerhans, perhaps with a history of polyuria and polydipsia.
triggered by environmental factors (e.g. viruses) in Never ascribe frequency of micturition to
people with a genetic predisposition (Fig. 21.1). The urinary tract infection without checking for
incidence of the disorder is increasing in the UK. glycosuria and culturing urine.

Pathophysiology
The pathophysiological pathways are described in
Diabetic ketoacidosis supervenes at a late stage
Fig. 21.2. Key features include:
over a short period and is characterized by abdo-
Insulin deciency becomes clinically signicant minal pain, vomiting, features of severe dehydration
when 90% of the cells are destroyed. and ketoacidosis (see Hints & Tips). Younger
Osmotic diuresis ensues when blood glucose children develop more severe complications of
concentration exceeds renal threshold. ketoacidosis.

179
Endocrine and metabolic disorders

Fig. 21.1 Aetiology of insulin-


dependent diabetes mellitus. Aetiology of insulin-dependent diabetes mellitus

Genetic factors
Inherited susceptibility is demonstrated by increased incidence of IDDM in first-degree relatives:
2-5% in siblings and offspring. Concordance for identical twins is 30%. There is an 8-10 times
risk for IDDM in people who are HLA-DR3, HLA-DR4, or both
Auto-immune factors
Auto-immune basis is supported by:
Anti-islet cell antibodies
Lymphocytic infiltration of pancreas
Association with other auto-immune endocrine diseases, e.g. thyroiditis, Addison disease
Environmental factors
Triggers may include viruses and dietary proteins

Average requirement is 0.51.0 unit/kg/day.


During the honeymoon or remission phase,
which can last for weeks or months after
Traps for the unwary regarding diabetic
presentation, temporary residual islet cell
ketoacidosis include mistaking the
function causes a reduction in insulin
abdominal pain for acute appendicitis
requirements.
and mistaking the hyperventilation for pneumonia.
Insulin regimes (Fig. 21.3): (1) One, two or
three injections dailyusually combination of
short/rapid acting insulin with an intermediate
Diagnosis acting insulin. It often comes premixed in
Diagnosis is conrmed in a symptomatic child by specic ratios. (2) Multiple daily injections
documenting hyperglycaemiaa random plasma this involves short/rapid acting insulin
glucose level >11 mmol/L in the absence of other injections before meals and one or more
acute illnesses. If there is doubt, as might occur very separate injections of intermediate/long acting
early in the disease process, a fasting plasma glucose insulin. (3) Continuous subcutaneous insulin
>8 mmol/L or a raised glycosylated haemoglobin infusion using a pump.
level will clarify the situation. Oral glucose tolerance In the rst regime, the total daily dose is
tests are rarely needed in children. divided in a 1 : 2 proportion between short-
acting (regular, soluble) insulin and medium-
Management acting (isophane) insulin. Two-thirds is usually
given before breakfast and one-third before the
The discovery of insulin in 1922 transformed type
evening meal, so two injections per day are
1 diabetes mellitus from a fatal disease into a treat-
administered.
able one. Initial management depends on the childs
Multiple daily injection regimes usually use
clinical condition. Long-term management of this
ultra rapid acting insulins as they are more
life long condition rests on:
convenient (usually taken just before a meal, or
Insulin replacement. even after the mealthe dose can be titrated
Diet. according to blood sugar response) and results
Exercise. in improved glucose control.
Monitoring. Injections are given subcutaneously and
Education and psychological support. can be given in upper arms, outer thighs or
Management of complications: hypoglycaemia abdomen. The site must be rotated to
and diabetic ketoacidosis. avoid local complications such as fat
atrophy.
These are considered in turn.
During puberty, insulin requirements increase.
Insulin replacement Multiple injections may result in better
The important features of insulin replacement are: glycaemic control.

180
Disorders of carbohydrate metabolism 21

Fig. 21.2 Pathophysiology of insulin-


dependent diabetes mellitus.
cell destruction

Insulin deficiency

Decreased Increased Increased


glucose utilization gluconeogenesis lipolysis

Hyperglycaemia Increased
ketoacids

Osmotic diuresis Ketonuria

Symptomatic
diabetes Polydipsia Polyuria Weight loss

Loss of water, Ketoacidosis


Na+, K+
Diabetes
ketoacidosis

Dehydration
metabolic acidosis

Types of insulin

Type of insulin Onset of action Duration of action Examples

Rapid acting 15 min 15 h NovoRapid (insulin aspart)

Short acting 3060 min Up to 8 h Actrapid, Humulin (soluble insulin)

Intermediate acting 12 h 1635 h (peak: 412 h) Isophane insulin

Long acting Steady state in 34 days Constant Levemir (insulin detemir), Lantus
(insulin glargine)

Biphasic insulin Variable Variable Mixtard, NovoMix, etc.

Fig. 21.3 Types of insulin.

181
Endocrine and metabolic disorders

Diet and exercise A basic understanding of diabetes in lay language.


Food intake needs to match the time course of The inuence of diet and exercise on blood
insulin absorption and be adjusted for unusual glucose levels.
heavy exercise. Dietary management therefore Practical aspects of insulin injection and blood
encompasses: glucose monitoring.
Recognition and treatment of hypoglycaemia.
High bre, complex carbohydrates: this
Adjustments for intercurrent illness, signicance
provides sustained release of glucose and avoids
of ketonuria.
rapid swings in blood glucose generated by
The importance of good control.
rened carbohydrates (e.g. sweets or ice
creams).
Food intake is divided between the three main
meals and intervening snacks. A multidisciplinary approach is
Food intake is increased before or after heavy essential, involving the
exercise to avoid hypoglycaemia. physician, dietitian, diabetic
nurse and community nurses.
Children and parents should be introduced to the
various members of the team before discharge if
Dietary advice is an important possible since they can offer valuable support
part of the management of regarding the practical aspects of diabetic
diabetes. Involvement of a management.
dietitian is crucial. Once a
diagnosis of diabetes is made, children are seen by
the diabetic nurse and the dietitian before discharge
and arrangement for follow up made. It is important
The diagnosis of type 1
to ensure that this is done before the child goes
diabetes provokes strong
home.
emotional responses in the
child and family, including
anger, guilt, resentment and fear. Adjustment to
Monitoring these normal responses is facilitated by open
Monitoring of blood glucose concentrations is nec- discussion. Voluntary groups (e.g. the British Diabetic
essary to evaluate the management and control. This Association) are important sources of support.
is performed using nger-prick samples, which are
convenient and easy to take. Readings are recorded
in a diary so changes to insulin regimens can be
appropriately made. 24-hour proles are more
useful than single daily records. Urine testing is
Adolescence and diabetes mellitus:
more indirect, does not detect unacceptably low
Adolescence is often a difcult time
levels of glucose, and is often less popular, especially
for the diabetic.
with teenagers. However, urine testing for ketones
There might be conict at home and with
is important if ketoacidosis is suspected.
healthcare professionals.
The measurement of glycosylated haemoglobin
Problems occur with self-image, self-esteem and
(HbA1c) reects glycaemic control over the past 68
desire for independence.
weeks and allows long-term glucose control to be
Denial or indifference can lead to poor compliance.
optimized. NICE guidelines recommend a target
Feeling well is equated with good control and
HbA1c level less than 7.5 %, though in practice this
long-term risks are often ignored.
may result in more hypoglycaemic episodes.
Helpful strategies include: a united team
Education and psychological support approach, clear guidelines plus short-term goals
Children and their families require an educational and peer group pressure.
programme that covers:

182
Disorders of carbohydrate metabolism 21

Management of complications Late complications of diabetes


These can be divided into immediate complications, Intensive insulin control with four injections daily
which include hypoglycaemia and diabetic ketoaci- reduces the incidence of long term vascular compli-
dosis, and late complications. cations of diabetes such as:
Hypoglycaemia The concentration of glucose in the Retinopathy.
blood can fall when there is a mismatch between Nephropathy.
insulin dose, time of administration, carbohydrate Neuropathy.
intake and exercise. Many young children are not
Intensive control is associated with more hypogly-
aware of hypoglycaemic episodes and repeated
caemic episodes, hence may not be suitable in young
hypoglycaemic episodes increase this lack of
children. This is usually acceptable only in older
awareness.
children.
Symptoms usually occur at blood glucose levels
below 4 mmol/L. Initial symptoms reect the com-
Hypoglycaemia
pensatory sympathetic discharge and include feeling
faint, dizzy or wobbly, sweating, tremulousness This is a common problem in the newborn (see
and hunger. More severe symptoms reect glucose Chapter 25) but is still seen occasionally in infants
deprivation to the central nervous system and and children. It is important to diagnose because it
include lethargy, bizarre behaviour andulti- is easy to treat and has serious consequences if
matelycoma or seizures. Unlike adults and older unrecognized.
children, in young children the behavioural and The various causes are best understood in rela-
neuroglycopenic symptoms predominate over auto- tion to the normal factors determining glucose
nomic symptoms. homeostasis. The major causes are listed in Fig.
Treatment of a hypo is easily achieved at an early 21.4.
stage by administration of a sugary drink, glucose
tablet or glucose polymer gel, which is well absorbed Clinical features
via the buccal mucosa, but this should be followed Early symptoms reect the compensatory sympa-
by a more complex form of carbohydate. In severe thetic response and include dizziness, faintness and
hypoglycaemia, if consciousness is impaired or there hunger. Signs include tachycardia, sweating and
is lack of cooperation, IV glucose or 1 mg of IM pallor. Late features are those of neuroglycopenia:
glucagon is administered. Eating a sugary snack just altered behaviour and consciousness, headache and
before exercising reduces the risk of exercise-induced seizures.
hypoglycaemia.
Diabetic ketoacidosis This can occur at presenta- Diagnosis
tion or complicate established diabetes (e.g. if there The precise denition of hypoglycaemia is problem-
is poor compliance or intercurrent illness). It is con- atic but a useful working denition is a blood
sidered in Chapter 26. glucose less than 2.6 mmol/L. This corresponds to

Fig. 21.4 Causes of hypoglycaemia


Causes of hypoglycaemia beyond the neonatal period beyond the neonatal period.

Metabolic
Ketotic hypoglycaemia
Liver disease
Inborn errors of metabolism, e.g. glycogen storage disorders
Hormonal
Deficiency
Adrenocortical insufficiency, e.g. Addison disease, congenital adrenal hyperplasia
Panhypopituitarism
Growth hormone deficiency
Hyperinsulinism
Islet cell adenoma
Exogenous insulin-treated IDDM

183
Endocrine and metabolic disorders

changes in the EEG. Measurements made using a Hypothyroidism


glucose-sensitive strip should always be veried by
a laboratory measurement. Serum and urine should This might be present at birth (congenital hypothy-
be taken during the attack for further diagnostic roidism) or develop at any time during childhood
testing e.g. for metabolic disorders. or adolescence (acquired hypothyroidism).

Management Congenital hypothyroidism


If the child is alert then giving a sugary drink is the This has an incidence of 1 in 4000 live births. The
rst step; an unconscious child should be given causes include:
5 mL/kg IV 10% dextrose. Higher concentrations Developmental defects: thyroid agenesis or
have been associated with rebound hypoglycaemia failure of migration.
and should be avoided. Blood glucose should be Dyshormonogenesis: inborn error of thyroid
monitored closely and a maintenance infusion of hormone synthesis (accounts for 15%, a goitre
glucose can be given if the hypoglycaemia persists. usually occurs).
Glucagon can be used in cases where glycogen stores Transient congenital hypothyroidism:
are not depleted, e.g. insulin overdose. (e.g. ingestion of maternal goitrogens).
Congenital pituitary lesions (rare).
Ketotic hypoglycaemia Maternal iodide deciency: the most common
The most common cause of hypoglycaemia in chil- cause worldwide.
dren 14 years of age, this ill-dened entity is the Clinical features
result of diminished tolerance of normal fasting. Infants may appear clinically normal at birth. The
The typical child is short and thin and becomes clinical features that develop include:
hypoglycaemic after a short period of starvation, for
example, in the early morning. Insulin levels are low Prolonged neonatal jaundice.
and there is ketonuria. Treatment is with frequent Feeding problems.
snacks and extra glucose drinks during intercurrent Constipation.
illness. Spontaneous resolution occurs by the ages Coarse facies, large fontanelle, large tongue,
of 68 years. hypotonia and goitre.
Diagnosis and treatment
Testing for hypothyroidism is a part of the neonatal
screening in the UK and most infants are diagnosed
Regarding hypoglycaemia, at the time of this way. Most laboratories test for raised levels of
blood glucose measurement, samples thyroid stimulating hormone (TSH), although some
should be sent for measurement of: measure both TSH and thyroxine (T4). Early diagno-
Plasma insulin, growth hormone and cortisol. sis and treatment with oral thyroxine results in
-hydroxybutyrate. nearly normal neurological function and intelli-
Urine should be tested for ketones. gence. Acquired hypothyroidism is treated with
thyroxine. Monitoring of treatment is by regular
assessment of TSH and T4.

THYROID DISORDERS Hyperthyroidism


Neonatal hyperthyroidism can occur in the infants
Thyroid hormone is critical for normal growth and
of mothers with Graves disease from the transpla-
neurological development in infants and children.
cental transfer of thyroid-stimulating immunoglob-
Conditions causing hypothyroidism and hyperthy-
ulins (see Chapter 26).
roidism occur, and the gland can also be the site of
benign and malignant tumours. Worldwide, the
most important condition affecting the thyroid Juvenile hyperthyroidism
gland is iodide deciency, estimated to affect at least This is most commonly caused by Graves disease,
800 million people. an autoimmune condition in which one type of

184
Adrenal disorders 21

antibody (human thyroid stimulating immuno- Congenital adrenal hyperplasia (CAH):


globulins) mimics TSH by binding and activating an inherited inborn error of metabolism in
the TSH receptor. It usually presents during adoles- biosynthesis of adrenal corticosteroids.
cence and is much more common in girls than Primary adrenal cortical insufciency:
boys. Addisons disease.
The clinical features are similar to those seen Secondary adrenal insufciency: ACTH
in adults and can also include deteriorating deciency due to pituitary disease or long-term
school performance; puberty might be delayed or corticosteroid therapy.
accelerated.
On laboratory testing, serum levels of thyroxine Congenital adrenal hyperplasia (CAH)
(T4) and triiodothyronine (T3) are elevated and TSH
This is a group of disorders caused by a defect in the
levels are depressed. Antimicrosomal antibodies are
pathway that synthesizes cortisol from cholesterol.
often present.
Approximately 90% of cases are caused by a de-
Medical therapy with carbimazole is the rst line
ciency in 21-hydroxylase and 57% are due to 11-
of treatment. -blockers can be added for relief of
hydroxylase deciency; other defects are seen but are
severe symptoms but should be discontinued when
rare. Prevalence is approximately 1 in 10 000 and
thyroid function is controlled. Subtotal thyroidec-
newborn screening is available in some centres. The
tomy or radioiodine treatments are options for
condition is autosomal recessive and the gene is
relapse after medical treatment. Radioiodine has not
found on chromosome 6.
been shown to be harmful in children.
Clinical features
Clinical features are due to androgen excess and
cortisol deciency:
Female virilization.
Slow linear growth is the hallmark of Salt-wasting crises due to mineralcorticoid
hypothyroidism in childhood. deciency (this is less common with
Children with Down syndrome have 11-hydroxylase deciency). This leads to
an increased incidence of hypothyroidism and volume depletion, electrolyte imbalances and
hyperthyroidism. shock.
Cortisol deciencyhypoglycaemia,
hypotension, shock.
It is difcult to diagnose male infants with this dis-
ADRENAL DISORDERS order because they have few clinical manifestations
at birth. For this reason, screening programmes are
Disorders of the adrenal cortex can result in de-
currently being evaluated.
ciency or excess of adrenocortical hormones. The
latter causes Cushing syndrome, the most common Diagnosis
cause of which is chronic administration of cortico- Diagnosis rests on the demonstration of markedly
steroids. Disorders of the medulla (e.g. phaeochro- elevated levels of 17-hydroxyprogesterone in the
mocytoma) are exceedingly rare. serum. In the salt-losing form, the characteristic
Cortisol, the major glucocorticoid, is stimulated electrolyte disturbance of hyponatraemia, hypo-
by pituitary adrenocorticotrophic hormone (ACTH) chloridaemia and hyperkalaemia provides a clue to
under a negative feedback loop. Aldosterone is the the diagnosis.
principal mineralocorticoid and is controlled by the
Management
reninangiotensin system. The major sex steroids
Initial management of a salt-losing crisis involves
produced by the adrenal glands are androgens.
volume replacement with normal saline and sys-
temic steroids. Parents are also taught to recognize
Adrenocortical insufciency early signs of illness and children should carry a
Diminished production of adrenocortical hormones steroid card to alert health professionals.
may arise from: Long-term treatment involves:

185
Endocrine and metabolic disorders

Cortisol replacement with hydrocortisone: to


Causes of Cushing syndrome
suppress ACTH and androgen overproduction.
Growth is used as a monitor of therapy. Primary Adrenal tumour
Mineralocorticoid replacement: udrocortisone
Secondary ACTH secretion from:
if there is salt wasting.
Pituitary tumour
Surgical correction of female genital Ectopic ACTH production
abnormalities.
Iatrogenic Long-term glucocorticoid
administration

Fig. 21.5 Causes of Cushing syndrome.

Congenital adrenal hyperplasia is a Cushing syndrome


potentially lethal but treatable cause of
This is a cluster of symptoms and signs caused by
vomiting and dehydration in young infants.
glucocorticoid excess, due either to endogenous
overproduction of cortisol or exogenous treatment
with pharmacological doses of corticosteroids. The
causes are listed in Fig. 21.5.
Primary adrenal insufciency
Clinical features
Addisons disease is rare in children but can be
caused by: The clinical features include:

Autoimmune disease. Short stature.


Haemorrhage and infarction (Waterhouse Truncal obesity, buffalo hump.
Friderichsen syndrome). Rounded moon facies.
Tuberculosis (rare). Signs of virilization, striae.
Hypertension.
Physical ndings include postural hypotension
and increased pigmentation. Intercurrent illness or Diagnosis
trauma can trigger an adrenal crisis (characterized
Elevated serum cortisol levels are found with absence
by vomiting, dehydration and shock).
of the normal diurnal rhythm (high midnight
levels). A prolonged dexamethasone suppression
Secondary adrenal insufciency
test might be required to distinguish Cushing disease
This is most commonly caused by prolonged gluco- (ACTH-driven bilateral adrenal hyperplasia: sup-
corticoid use in diseases not involving the adrenal pressible by dexamethasone) from Cushing syn-
gland, e.g. severe chronic asthma. The risk is in- drome (adrenal tumour: cortisol levels not
creased by increased duration of treatment but suppressed by dexamethasone). CT or MRI of the
courses less than 10 days have a low risk. Reduc- adrenal and pituitary glands might identify an
tion of steroid doses should be slow after a pro- adrenal tumour or pituitary adenoma. Treatment
longed course and tailored to the underlying depends on the cause and might involve surgical
disease. This also rarely occurs with high-dose resection and radiotherapy.
inhaled steroids.

DISORDERS OF THE
PITUITARY GLAND

Steroid administration must not be The pituitary gland has two distinct portions: the
stopped suddenly. If the child is sick an anterior and posterior lobes. These have different
increased dose might be needed. embryonic origins and separate hormonal func-
tions. Pituitary disorders in childhood are rare.

186
Disorders of the gonads 21

Anterior pituitary disorders CNS disease: meningitis, brain tumours or head


trauma.
A deciency of the anterior pituitary hormones is Lung disease: pneumonia.
more common than an excess of these and might
involve individual hormones or all (panhypo- Treatment is by treating the underlying cause and
pituitarism). Hypopituitarism in children can be uid restriction.
caused by:
Cranial defects, e.g. septo-optic dysplasia and
agenesis of corpus callosum.
DISORDERS OF THE GONADS
Tumours, e.g craniopharyngioma.
These cause abnormalities of sexual differentiation
Idiopathic hormone abnormalities.
(which usually present in the newborn) and disor-
Trauma/surgery and radiation.
ders of puberty, which might be precocious or
Growth retardation is a common feature, together delayed.
with thyroid, adrenal and gonadal dysfunction
depending on the pattern of deciency. Isolated Disorders of sexual
idiopathic growth hormone (GH) deciency differentiation
accounts for most cases of GH deciency.
Abnormal sexual differentiation results in a newborn
with ambiguous genitalia. Congenital adrenal
Posterior pituitary disorders hyperplasia leading to a virilized female is the
The posterior lobe (neurohypophysis) secretes argi- most common cause. The causes can be classied as
nine, vasopressin (also called antidiuretic hormone, shown in Fig. 21.6.
ADH) and oxytocin. Complete diagnostic evaluation should be under-
taken as soon as possible. A denite sex cannot
and should not be assigned immediately. It is worth
Diabetes insipidus
remembering that sex is determined at many dif-
This results from deciency of ADH. It might occur ferent levels (Fig. 21.7). Naming and announcement
as an isolated idiopathic defect or in association
with anterior pituitary deciency (e.g. due to
tumours, infections or trauma).
It presents with polydipsia and polyuria. Several Causes of abnormal sexual differentiation

conditions mimic diabetes insipidus, including


46XY males with testes and incomplete masculinization due to:
hypercalcaemia, chronic renal disease and psycho- Defects in testosterone synthesis
genic water drinking. Diagnosis is by a water depri- Defects in androgen action, e.g. 5-reductase deficiency
vation test. 46XXAndrogen resistance (testicular feminization syndrome)
females with ovaries who are masculinized due to:
Congenital adrenal hyperplasia

Syndrome of inappropriate secretion of Maternal androgen exposure


ADH (SIADH) Fig. 21.6 Causes of abnormal sexual differentiation.
Diagnosis consists of:
Hypo-osmolality with hyponatraemia.
Normal or increased volume status. Sex determination
Normal renal, thyroid and adrenal function.
Elevated urine sodium and osmolality. An individuals sex is determined at many different levels:
Chromosomal
Symptoms occur due to effects of water intoxication: Gonadal (testis, ovary)
these include vomiting, behavioural changes and Anatomical (internal and external genitalia)
Hormonal
seizures. Psychological
SIADH is a common stress response and might Sex of rearing
be caused by several underlying conditions
including: Fig. 21.7 Sex determination.

187
Endocrine and metabolic disorders

Features of puberty Causes of precocious puberty

Male genitalia First sign is testicular growth Gonadotrophin-dependent


Followed by penis enlargement Idiopathic, familial
Growth spurt reached 2 years CNS lesions, e.g. postirradiation, surgery, tumours,
later than females hydrocephalus
Gonadotrophin-independent
Female genitalia Initially breast development McCuneAlbright syndrome (polyostotic fibrous
Pubic and axillary hair dysplasia of bone)
development follows Tumours of adrenals or gonads
Menses occur late
Fig. 21.9 Causes of precocious puberty.
Fig. 21.8 Features of puberty.

Fig. 21.10 Causes of delayed


puberty. Causes of delayed puberty

Central causesgonadotrophins low


Constitutional delayed puberty
Hypothalamo-pituitary disorders, e.g. panhypopituitarism, intracranial tumours,
isolated gonadotrophin deficiency
Severe systemic disease, e.g. cystic fibrosis, severe asthma, starvation
Gonadal failuregonadotrophins high
Chromosomal abnormalities, e.g. Klinefelter syndrome (47, XXY), Turner syndrome (45, XO)

of the childs sex should be delayed until the Premature thelarche: isolated breast
diagnostic work-up is complete. Investigations will development in a very young girl. A non-
include: progressive, benign condition.
Premature adrenarche: isolated early
Chromosomal analysis.
appearance of pubic hair in either sex. A
Hormone levels: testosterone, luteinizing
benign, self-limiting condition due to early
hormone, follicle stimulating hormone,
maturation of adrenal androgen secretion,
17-hydroxyprogesterone.
although an adrenal tumour might need to be
Pelvic ultrasonography.
excluded.
Management is multidisciplinary, involving:
The causes of precocious puberty are shown in Fig.
Endocrinology. 21.9. In females, it is usually due to early onset of
Psychology. normal puberty. In boys, it is usually pathological
Paediatric urology and gynaecology. and must be investigated.
Treatment depends on cause. Gonadotrophin-
Disorders of puberty releasing hormone analogues (GnRHa) can be used
to prevent puberty from progressing.
During normal puberty, secondary sex characteris-
tics are acquired and reproductive capacity is
attained. Features of normal puberty in males and Delayed puberty
females are listed in Fig. 21.8. Puberty can be preco- This can be dened as the absence of secondary sex
cious or delayed. characteristics at 14 years of age in girls or 15 years
of age in boys. The problem is more common in
Precocious puberty boys and the majority of adolescents affected are
This refers to the development of secondary sexual normal. The causes are listed in Fig. 21.10.
characteristics before the age of 8 years in girls or 9 Assessment should include pubertal staging and
years in boys. There is an associated growth spurt. It examination to exclude systemic disease. If indi-
should be differentiated from: cated, helpful investigations are:

188
Inborn errors of metabolism 21

Chromosomal analysis. metabolic energy insufciency. Clinical manifesta-


Measurement of gonadotrophin levels. tions are non-specic and often mistaken for sepsis.
Metabolic stress often precipitates symptoms, e.g.
Treatment is often not required for constitutional
weaning, intercurrent infections and commonly
delay, but hormone therapy (e.g. oxandrolone or
during the neonatal period.
low-dose testosterone) can be used to accelerate
Features in the neonate that should raise the sus-
growth and induce secondary sexual characteristics
picion of a metabolic error include:
in boys. Oestrogen therapy can be used in girls but
care must be taken to prevent premature closure of Parental consanguinity.
the epiphyses. Previous sudden infant death.
Previous multiple miscarriages.
Encephalopathic episodes.
Severe disease in whom a diagnosis has not
been forthcoming.
Precocious puberty is more common Investigations might reveal severe metabolic aci-
in girls. dosis, hypoglycaemia or hyperammonaemia. In
Delayed puberty is more common in boys. older children, they should be considered as a
cause of:

Progressive learning difculties.


Developmental delay.
INBORN ERRORS Seizures.
OF METABOLISM Failure to thrive.
Coarse facies.
This term is used to describe any of the inherited Hepatosplenomegaly.
disorders that result in a defect in normal biochemi- Investigations that should be undertaken for an
cal pathways. Several hundred of these conditions initial screen include:
have been described. Individually they are rare,
although certain ethnic groups are at increased risk Urea and electrolytes, liver function tests, lactate
for specic diseases. and ammonia levels.
Inborn errors of metabolism are usually autoso- Acidbase status and anion gap.
mal recessive, although some are X-linked. The main Cerebrospinal uid (CSF) lactate.
categories are listed in Fig. 21.11. Blood levels of glucose and amino acids.
The clinical effects might be caused by accu- Urine amino acids and organic acids: ketonuria
mulation of excess precursors, toxic metabolites or is abnormal as neonates do not readily produce
ketones in the urine.

Treatment is to stop feeds and administer dextrose


Categories of inborn errors of metabolism to stop metabolic load and further catabolism. Cor-
rection of metabolic disturbances and ventilatory
Category Examples
and renal support may be necessary.
Amino acid metabolism Phenylketonuria Although in many conditions the prognosis is
Organic acid metabolism Maple syrup urine disease
very poor, the diagnosis should be made so that
prenatal diagnosis can be performed in future
Urea cycle disorders Ornithine transcarbamylase
deficiency
pregnancies.
Examples of individual inborn errors of metabo-
Carbohydrate metabolism Galactosaemia lism are considered briey in turn.
Glycogen storage diseases

Mucopolysaccharidosis Hurler syndrome Phenylketonuria (PKU)


This autosomal recessive trait has an incidence of 1
Fig. 21.11 Categories of inborn errors of metabolism. in 10 000 live births with a carrier rate of 1 : 50. In

189
Endocrine and metabolic disorders

most cases, the defect lies in the enzyme phenylala- Glycogen storage diseases
nine hydroxylase, which normally converts phenyl-
alanine to tyrosine. Hyperphenylalaninaemia This group of conditions is caused by defects in the
occurs, with a build-up of toxic byproducts, such as enzymes involved in glycogen synthesis or break-
phenylacetic acid, which are excreted in the urine down. There is an abnormal accumulation of glyco-
(hence phenylketonuria). gen in tissues. The pattern of organ involvement
As PKU is relatively common and is treatable, depends on the enzyme defect and may include
newborn screening is carried out by the Guthrie test. liver, heart, brain, skeletal muscle or other organs.
This is carried out at several days of age because it There are at least six varieties, some of which have
is necessary for the infant to have been fed milk, eponyms, e.g. type 1A (von Gierkes disease; glucose-
which contains phenylalanine. 6-phosphatase deciency). Affected children have
Infants with PKU are clinically normal at birth. growth failure, hypoglycaemia and hepatomegaly.
Symptoms and signs appear later in infancy and Treatment is by frequent feeds throughout day and
childhood if the disorder is undetected and night.
untreated. These include:
Mucopolysaccharidoses (MPS)
Neurological manifestations: moderate to severe
This group of disorders is caused by defects in
mental retardation, hypertonicity, tremors,
enzymes involved in the metabolism and storage of
behaviour disorders and seizures.
mucopolysaccharides. They are progressive multi-
Growth retardation.
system disorders that can affect the central nervous
Hypopigmentation: fair skin, light hair (due to
system, eyes, heart and skeletal system. Characteris-
the block in tyrosine formation that is required
tic features are:
for melanin production).
Developmental delay in the rst year.
Treatment consists of dietary manipulation. The
Coarse facies: develop in most cases although
phenylalanine content of the diet is reduced. This
children are normal at birth.
should start early in infancy and is continued until
at least 6 years of age. Some authorities recom- There are numerous types, many of which have epon-
mend lifelong dietary restriction but the diet is ymous designations, e.g. MPS I (Hurler syndrome,
unpalatable. which is autosomal recessive). Affected children
Females with PKU must be on dietary restriction develop coarse facial features, corneal opacities, hep-
if planning a pregnancy, because maternal atosplenomegaly, kyphosis and mental retardation.
hyperphenylalaninaemia is associated with sponta- Diagnosis is made by identifying the enzyme
neous abortion, microcephaly and congenital heart defect and identifying the excretion in the urine of
disease. the major storage substances, the glycosaminogly-
cans. Treatment is by bone marrow transplant if
Galactosaemia performed early.
This causes neonatal liver disfunction, coagulopathy
and cataracts. It has an association with E. coli
References
Devendra D, Liu E, Eisenbarth GS. Type I diabetes: recent
sepsis. It is diagnosed by the presence of reducing
developments. British Medical Journal 2004; 328:750754.
substances in the urine and decreased or absent National Institute of Clinical Excellence. Diagnosis and
galactose-1-phosphate uridyltransferase in red cells. management of type 1 diabetes in children, young people
A high suspicion of this disorder should be consid- and adults. 2004.
ered in all cases of severe neonatal jaundice. Treat- Wraith JE, Cleary MA, Chakrapani A. Detection of inborn
ment is by a lactose free diet and it is an absolute errors of metabolism in the newborn. Archives of Diseases
contraindication to breastfeeding. in Childhood. Fetal Neonatology Edition. 2001.

190
Disorders of emotion 22
and behaviour
Objectives

At the end of this chapter, you should be able to


Understand the aetiology of common childhood behavioural problems.
Understand the clinical presentations of autistic spectrum disorders.
Understand the common causes and management options for bedwetting.
Recognize the clinical features of ADHD.
Outline common behavioural problems in adolescence.

Major psychoses rarely present during childhood Nature


although disturbed emotions and behavioural prob-
lems are very prevalent. The conditions encountered Some children have a temperament that in itself can
are, not surprisingly, age-related and range from the make it difcult for the parents to maintain a posi-
toddler who will not sleep to deliberate self-harm tive, loving relationship. Features might include:
in an adolescent. Predominantly negative mood.
A childs personality, behaviour patterns and Intense emotional reactions.
emotional responses are determined by an interplay Poor and slow adjustment to new situations.
between nature (genetic endowment) and nurture
(predominantly provided by parents). The relative Developmental delay (e.g. slow language develop-
importance of genes and environment remains the ment) can also cause problems.
subject of debate and current research.
An infants rst relationship is usually with the Nurture
mother and separation anxiety typically becomes Families are the most powerful environmental inu-
evident at about 6 months to 1 year. By the second ence on a childs emotional and behavioural devel-
year, emotional attachments are extended to the opment. Adequate parents will endeavour to:
father and other family members, and by the age
Provide love and affection.
of 45 years separation from parents can be toler-
Provide food and shelter and protect children
ated for several hours as occurs with school
from physical harm.
attendance.
Exert authority to establish reasonable limits on
With entry into school, the importance of
behaviour.
otherssuch as teachers and fellow school chil-
drenin shaping the childs psychosocial develop- Risk factors with an adverse inuence are shown in
ment increases. Fig. 22.1.

PROBLEMS OF
EARLY CHILDHOOD
Early, strong, emotional bonding
underpins normal emotional Behavioural problems can relate to sleeping or
development. eating, and tantrums are common. The rare disorder
of autism might present at this time.

191
Disorders of emotion and behaviour

frequent or stereotyped in content. Reassurance is


Factors associated with disturbed emotional
and behavioural development usually sufcient.
Night terrors are a form of parasomnia in which
Parental factors there is rapid emergence from the initial period of
Maternal depression
Marital discord deep, slow-wave sleep, into a state of high arousal
Divorce or bereavement and confusion. The child usually cries out and is
Intrusive overprotection or emotional rejection
Inconsistent discipline
found sitting up with open eyes but disorientated
Socio-economic factors and unresponsive. The child settles, with no subse-
Poverty, poor housing
quent recall of the episode. Waking the child briey
before the night terror is expected to occur might
Fig. 22.1 Factors associated with disturbed emotional and break the pattern.
behavioural development.
Food refusal
Meal times can easily become a battleground.
Sleep-related problems Parents often nd that their toddler refuses to eat
the meals provided or is a fussy eater. The child is
Babies invariably well nourished or small with a normal
An average baby sleeps for 15 hours a day in the rst rate of weight gain. Advice can be given to avoid:
23 months of life, sleeping for about 4 hours and
Excessive food and drink between main meals.
waking for 3 hours at a time. At about 4 months,
Irregular meal times.
night-time breastfeeds are often discontinued and
Unsuitable food or unreasonably large portions.
the baby might sleep through for 8 hours. Some
Punitive methods, e.g. forcing a child to eat
babies are quiet wakeners, some are not, and appear
cold food.
to sleep less.
Small amounts of food with gradual introduction of
Toddlers new foods in a relaxed, non-bargaining atmosphere
is the best approach. No preschool child will volun-
Problems include:
tarily starve him- or herself, although some mothers
Difculty in settling to sleep at night. nd this difcult to believe.
Waking at night.
Nightmares and night terrors. Tantrums
Toddlers normally go through a period in which
Difculty in getting to sleep at night they are disinclined to comply with their parents
A child might not settle at night for many reasons demands; this phase is sometimes referred to as
including: the terrible twos. Temper tantrums can occur in
response to frustration. Parents might become de-
Separation anxiety.
moralized in their attempts to assert control.
Fear of darkness and silence.
Erratic bedtime routine.
Use of the bedroom as punishment.
Management
Management strategies for toddler taming include:
Helpful strategies include creating a predictable
structure around bedtime and leaving the child Praising compliance and reward good behaviour.
alone to settle for lengthening periods. Sedatives are Avoiding threats that cannot be carried out.
used only as a last resort to relieve parental exhaus- Setting reasonable limits.
tion (it should be pointed out that it is parents, not Giving clear commands.
children, who have sleep problems). A tantrum itself can be dealt with by ignoring it (this
can be difcult, especially in a public place) or by
Nightmares and night terrors giving the child time-out (removing him or her
Nightmares are bad dreams that can be recalled by from social interaction for a short period, e.g. in a
the child. They are common and normal unless very separate room).

192
Problems of middle childhood 22

Autistic spectrum disorder skills and obsessional interests. This syndrome tends
to be recognized in later childhood.
This rare, pervasive condition presents in early
childhood with a triad of difculties that is usually
evident before the age of 3 years. It is part of a spec-
trum of disorders characterized by profound impair-
ment of social interactions. Autism is characterized by:
The prevalence is 0.721 cases out of 10 000 chil- Delayed and abnormal language.
dren with an excess of males (M : F ratio 4 : 1). Autism Difculty relating to otherspoor
is an organic neurodevelopmental disorder, with a social reciprocity.
strong genetic component in its causation in most Restricted, stereotyped interests and activities.
cases. On occasion, an identiable cause or coexist-
ing condition is present. No association with immu-
nization has been found. Autistic features are found Management
in patients with:
There are no drug treatments for autism but medical
Fragile X syndrome. treatment for epilepsy might be necessary. However,
Tuberous sclerosis. specic indications do exist for symptomatic treat-
Untreated phenylketonuria. ment of problems such as extreme anxiety or disrup-
tive behaviour. Special education programmes are
The four main features include:
required to meet the complex needs of the individ-
Impaired social interaction: poor interactions ual child. A variety of behavioural treatment pro-
with others and avoiding eye contact. grammes has been tried and it is vital that parents
Impaired communication: delayed speech and receive strong professional support. Only 15% of
language development with poor affected individuals are independent in adult life
comprehension. with another 1520% functioning well with support.
Restricted pattern of behaviour and interests: Improved outcomes are seen if communicative
stereotypical patterns and lack of imaginative speech is present by 5 years of age.
play and behaviour.
Onset before 3 years of age.
In addition to these features, about two-thirds of PROBLEMS OF
affected children have a severe learning disability MIDDLE CHILDHOOD
and a quarter of autistic individuals develop epilep-
tic seizures during adolescence. Continence disorders
Autism is one end of a spectrum of disorders.
Children can have autistic features and be socially Enuresis
and functionally impaired without fullling criteria Enuresis is the involuntary discharge of urine at an
for a diagnosis of autism. Children with Aspergers age after continence has been reached by most chil-
syndrome, for example, have near normal IQ and dren (see Hints & Tips). Enuresis is usefully subcat-
speech but impaired social and communication egorized as shown in Fig. 22.2.

Fig. 22.2 Classication of enuresis.


Classification of enuresis

Primary or secondary?
Children with primary enuresis have never been continent for a period of at
least 3 months
Secondary enuresis is incontinence after a prolonged period of bladder control
Nocturnal or diurnal?
Nocturnal enuresis occurs only at night (85% enuretic children)
Diurnal enuresis occurs during the day (5% enuretic children)
10% have a mixed type

193
Disorders of emotion and behaviour

rology of the lower limbs examined thoroughly.


Investigation should include:
Urinary continence (dryness) is achieved Urinalysis: tests for proteinuria and glycosuria.
by most girls by age 5 years and boys Microscopy and culture of a clean catch
by age 6 years. midstream urine.

Management
Important general measures include the establish-
Nocturnal enuresis ment of a supportive and trusting relationship with
Nocturnal enuresis, or bedwetting, is the involun- the child and parents. A simple explanation of how
tary voiding of urine during sleep beyond the age at the bladder works as a muscular balloon and the
which dryness at night has been achieved in a major- problem of being unaware of a full bladder during
ity of children. Children under 5 years of age who sleep should be given. Parental intolerance should
regularly wet the bed can be regarded as normal. be discouraged (by a reminder of how common
About 1 in 6 ve-year-olds regularly wets the bed; enuresis is) and functional payoffs (e.g. sleeping in
this drops to 1 in 20 at age 10 years. parents bed) should be identied and stopped. A
Nocturnal enuresis is usefully classied into: diary of wetting should be kept for at least 4 weeks
and frequent, regular supervision by the doctor
Primary, in which dryness has never been
should be arranged.
achieved.
Further management is age-dependent:
Secondary, in which it has.
Under 5 years: the situation should improve
The aetiology of primary nocturnal enuresis is
with reassurance.
multifactorial with genetic, emotional and cultural
Over 5 years: in addition to the above methods,
factors contributing. Organic causes of either are
star charts and appropriate praise might be of
uncommon but include:
value.
Urinary tract infection. Over 7 years: in addition to the above methods,
Polyuria due to diabetes mellitus or chronic alarms can be used. A choice of body-worn or
renal failure. pad and buzzer type alarm should be offered.
Neuropathic bladder. The alarm rings when urination begins, causing
Genital abnormalities. the child to wake up and hold-on to the
Faecal retention causing bladder neck sensation of a full bladder. A high degree of
dysfunction. compliance and motivation is required and
6070% of children will attain dryness after a
History and examination
few months.
The history should establish the frequency (50%
or more wet nights over 2 weeks is severe) and time Tricyclic antidepressants are rarely used in the treat-
of night that wetting occurs. The presence of any ment of enuresis. Desmopressin (a synthetic ana-
daytime urgency or wetting should be established as logue of antidiuretic hormone) is available in tablet
this suggests an underlying cause. A family history form and provides effective short-term relief. A per-
might be present and an assessment should be made centage of patients who attain dryness on desmo-
of any emotional stresses either at school or at pressin remain dry when it is stopped. Oxybutinin
home. is also used for this purpose.
Physical examination must include:
A review of growth and measurement of blood Encopresis (faecal soiling)
pressure to identify unrecognized renal failure. Encopresis is involuntary faecal soiling at an age
Careful abdominal palpation to exclude an beyond which continence should have been achieved
enlarged bladder. (normally about 4 years). Children with encopresis
Inspection of the genitalia. fall into two main groups:
The spine and overlying skin should be inspected Retentive: those with a rectum loaded with faeces.
for any deformity, hairy patch or sinus and the neu- There is overow incontinence (the majority).

194
Problems of middle childhood 22

Non-retentive: children without constipation The distended rectum will take several weeks to
and a loaded rectum who have a neurogenic shrink to normal size. It is unusual for the problem
sphincter disturbance or psychiatric illness. to persist into adolescence. Agents such as picosul-
phate or movicol can be used in different cases.
A number of factors predispose to chronic stool
retention. These include: Attention-decit hyperactivity
Environmental problems: lack of toilet facilities, disorder (ADHD)
harsh toilet training. The three hallmarks of ADHD are:
Idiopathic: some childrens rectums only empty
occasionally, perhaps due to poor coordination Inattention beyond the childs normal for age.
with anal sphincter relaxation. Hyperactivity.
Transient constipation: an episode of Impulsiveness.
constipation due to dehydration or an anal
ssure might lead to chronic retention. Incidence and aetiology
Organic constipation: associated with In the USA, this diagnosis is applied if either inat-
Hirschsprungs disease, drugs or tention or hyperactivity and impulsiveness persist
hypothyroidism. in two or more situations. In the UK, the diagnosis
of ADHD is made only if all three features:
Once established, a large bolus of faeces in the
rectum might be impossible for the child to expel. Are present for at least 6 months.
The loaded rectum becomes dilated and might Persist in more than one situation (home and
habituate to distension, so the child is unaware of school).
the need to empty it. Psychological factors can be Impair function.
both a cause and a result of encopresis. Soiling dis-
Hyperkinetic syndrome is a more severe subtype of
turbs the child and can have a profound impact in
ADHD with a prevalence of 1 in 200 (ADHD affects
school, social life and in the family.
24% of school children). Hyperkinetic syndrome
Onset of soiling in middle childhood, without a
is four times more common in boys than girls and
previous history of constipation, suggests a primary
is characterised by signicant hyperactivity.
psychiatric cause. It might occur in the setting of a
Twin studies suggest a genetic contribution to
chaotic family with high levels of emotional depri-
aetiology. Perinatal problems and delays in early
vation, neglect and disturbed behaviour.
development appear to be more common in hyper-
Diagnosis kinetic syndrome. Disturbed relationships, such as
Assessment must include a full bowel history, assess- might occur with an emotionally rejecting parent or
ment of the familys psychological functioning institutional upbringing, seem to exacerbate it.
and careful examination of the neurological system
and abdomen. Rectal examination and abdominal
palpation will determine whether there is faecal
retention.

Management Hyperkinetic syndrome is a severe


The key objective in management of encopresis due subtype of ADHD. It is more common in
to faecal retention is to empty the rectum as soon boys than girls.
as possible. This might require an enema but can
often be achieved by a combination of stool soft-
ener (e.g. lactulose) and laxative (e.g. senna). Regular
defecation should then be encouraged by: Clinical features
Features of ADHD:
Regular laxatives.
Star charts. Inattention: manifests as an easily distracted
Sitting on the toilet after meals. child who changes activity frequently and does
Dietary changes: increased bre. not persist with tasks.

195
Disorders of emotion and behaviour

Hyperactivity: an excess of movement with Alternative therapies


persistent dgeting and restlessness that can be Numerous alternative therapies have been advo-
distinguished from normal high-spirited, cated. Diets can have a role in a minority of children
energetic behaviour by the interference with and the parents observations that a particular food
normal social functioning. aggravates hyperactivity should be heeded. A trial of
Impulsiveness: acting without reection: an exclusion diet might be warranted. (Few children
affected children act impetuously and react to additives alone and a diet just excluding
erratically. foods with synthetic dyes or preservatives is unlikely
to be helpful.)
Although these features might be present in the pre-
Hyperactivity itself does not usually persist as a
school years, they often come to clinical attention
predominant feature into adulthood. However,
with the increased demands of the classroom. Physi-
affected children tend to do poorly at school and
cal examination should include a search for:
low self-esteem together with antisocial traits might
Developmental delay, clumsiness. turn them into disadvantaged adults.
Decits in hearing or vision and specic Symptoms diminish over time but approximately
learning difculties. half will continue to have symptoms in adolescence
Dysmorphic features. and adulthood.
Most children do not have a sudden onset or an
identiable brain disorder and do not need special
Recurrent pain syndromes
investigations such as electroencephalography or Recurrent pain without an organic cause is not
brain imaging. Between 18 and 35% will have an uncommon in children. The usual sites are the
additional psychiatric disorder. abdomen, head or limbs.
A strict dichotomy between organic and psycho-
Management logical causation for recurrent pain is unhelpful and
explains only a minority of cases. In most cases the
A behaviour-modifying and educational approach is
pain is best explained as dysfunctional, a result of
the mainstay of treatment but drug treatment should
mild individual differences in physiology that render
be considered if these strategies fail. It is important
the child vulnerable to pain in response to stress.
to explain the nature of the disorder to the parents
and school staff. Parent support groups might
provide reassurance and help.
Behavioural therapy
About 50% of children respond to behavioural
Apleys law: the further the pain is
therapy comprising:
from the umbilicus, the more likely it
A structured environment. is to be organic.
Positive reinforcement. The more localized limb pain is, the less likely it is
Cognitive approaches emphasizing relaxation to be growing pains.
and self-control. Measure the blood pressure and examine the
fundi in a child with recurrent headaches.
Extra help in the classroom and modication of the
curriculum might be required.
Drug therapy
Studies have shown that the addition of drugs to Clinical features and diagnosis
behavioural therapy is effective. These are central
The history should establish:
stimulant drugs such as methylphenidate (Ritalin).
Side effects include slowing of growth and hyperten- Onset, frequency and duration of the pain and
sion. A drug holiday should be given once per year. associated symptoms.
Atomoxetine and dexamfetamine are also used, Family functioning.
though less frequently. Stressors, e.g. bullying at school.

196
Adolescent problems 22

Fig. 22.3 Organic causes of


Organic causes of recurrent pain recurrent pain.

Site Cause

Abdominal pain Genitourinary problems: UTI, obstructive uropathy


Gastrointestinal disorders: inflammatory bowel disease, peptic ulcer

Headache Refractive disorders


Migraine
Hypertension
Raised intracranial pressure

Limb pain Neoplastic disease, e.g. leukaemia, bone tumour


Orthopaedic: OsgoodSchlatter disease

Physical examination is directed towards excluding of any underlying emotional disorder. Two-thirds of
an organic cause (Fig. 22.3). Investigations have a school refusers will return to school regularly.
low yield if physical examination is normal and
should be kept to a minimum. Full blood count,
erythrocyte sedimentation rate and urinalysis might ADOLESCENT PROBLEMS
be indicated.
This is a period during which a number of impor-
Management tant disorders might present, including emotional
For dysfunctional pain, normal activity should be disorders such as anxiety and depression, conduct
encouraged. Symptomatic relief should be offered disorders and disorders of eating.
(e.g. mild analgesics) and the patient should be
encouraged to keep a symptom diary. Eating disorders
Anorexia nervosa
School refusal
This eating disorder is characterized by:
Repeated absence from school might be due to
illness or truancy but in a few cases it is due to Refusal to maintain an expected bodyweight for
school refusal, i.e. an unwillingness to attend height with weight less than 85% of expected
because of anxiety. School refusal might be associ- bodyweight.
ated with: Intense fear of gaining weight or being fat.
Disturbed body image: feeling fat when actually
Separation anxiety (under 11 years). emaciated.
Adverse life events (bereavement, moving). Denial of the danger of serious weight loss or
Stressors (bullying). low body weight.
School refusers tend to be good academically but Amenorrhoea for at least three cycles (in
oppositional at home. postmenarchal girls).
True school phobia is seen in older, anxious chil- The prevalence rate is 1% with a peak age of onset
dren, who typically have problems beginning school of 14 years (and girls outnumbering boys by 20 to
in the autumn and returning to school after week- 1). The aetiology is unknown. The patient often
ends and holidays. Unlike school refusal, they are displays obsessive, overachieving, perfectionist and
poor academically and have a lack of desire rather controlling personality traits.
than anxiety about school.
Clinical features and diagnosis
Management Physical examination may reveal:
Management requires an early, graded return to Emaciation and muscle wasting.
school with support for the parents and treatment Fine lanugo hair over trunk and limbs.

197
Disorders of emotion and behaviour

Bradycardia and poor peripheral perfusion. contribution. Dysfunctional families or adverse life
Slowly relaxing tendon reexes. events might contribute.
Laboratory investigations may reveal:
Management
Reduced plasma proteins, vitamin B12 and ferritin. Treatment includes selective serotonin re-uptake
Endocrine abnormalities: elevated cortisol, inhibitor (SSRI) antidepressants and family therapy.
reduced T4, luteinizing hormone and follicle
stimulating hormone.
In boys, cranial computed tomography should be
undertaken to exclude a brain tumour. Suicide is the third most common
cause of death in adolescents and
Management and prognosis
young adults.
The immediate goal is to make a therapeutic alliance
Most intentional overdoses are not taken with
with the patient to restore normal bodyweight by
suicidal intent but an important minority are, so
re-feeding. This can be attempted initially as an out-
psychiatric evaluation is important in all cases.
patient, aiming at a gain of 500 g per week. Failure
to meet this target necessitates hospital admission
for re-feeding under nursing supervision. This can
be difcult because affected young people might Conduct disorder
hide food and lie about their weight. Tube feeding This is a syndrome characterized by the persistent
might be required if there is continued weight loss (612 months) failure to control behaviour within
in hospital. socially dened rules. This involves three overlap-
Once weight gain is achieved, psychotherapeutic ping domains of behaviour:
approaches are adopted. This aims to provide coun-
Deance of authority.
selling on handling conict, relationships and per-
Aggressiveness.
sonal autonomy.
Antisocial behaviour: violating other peoples
Prognosis is variable with an eventual 5% mortal-
property, rights or person.
ity rate from malnutrition, infection or suicide. Fifty
per cent make a good recovery, 30% show partial This affects approximately 4% of all children and is
improvement and 20% have a chronic relapsing more prevalent in boys. The aetiology is multifacto-
course. Good prognostic factors are: rial, with genetic and environmental contributions.
In many children, it is preceded by the so-called
Young age at onset.
oppositional deant disorder, i.e. children who
Supportive family.
demonstrate a persistent pattern of angry, negative,
Less denial and improved self-esteem.
vindictive and deant behaviour.

Emotional disorders Management and prognosis


Depression Family behavioural therapy with social support is
Depression as a clinical syndrome is more than just helpful. A signicant number (40%) of children
a transitory low mood or misery in response to with conduct disorder become delinquent young
adverse life circumstances. It is characterized by: adults with ongoing behaviour problems and dis-
rupted relationships. Those with onset before ado-
Persistent feelings of sadness or unhappiness. lescence are most at risk.
Ideas of guilt, despair and lack of self-worth.
Social withdrawal. Chronic fatigue syndrome
Lack of motivation and energy.
This refers to generalized fatigue persisting after
Disturbances of sleep, appetite and weight.
routine tests and investigations have failed to iden-
It is increasingly recognized in prepubertal children tify an obvious underlying cause. It is classically
but is predominantly a problem of adolescence. exacerbated by mental and physical exertion and
Aetiology is multifactorial but there is a clear genetic usually associated with non-specic pain in muscles

198
Adolescent problems 22

and joints. Headaches, sleep difculties, depressed Psychosis


mood, sore throat, tender lymph nodes and abdom-
inal pain can also occur. A full history and examina- Chronic disorders such as schizophrenia and
tion is important to characterise symptoms and bipolar affective disorder might present in adoles-
basic screening tests are important to exclude other cence. The prevalence of drug abuse in this age
diagnosis e.g. anaemia and hypothyroidism. De- group renders drug-induced psychosis an important
nite diagnosis allows a multidisciplinary approach problem.
to management.
Further reading
Management and prognosis Evans JHC. Evidence based management of nocturnal
enuresis. British Medical Journal 2001; 323:
Activity management strategy. 11671169.
Psychological and educational support. Volkmar FR, Pauls D. Autism. Lancet 2003; 362:
Symptom relief. 133141.

199
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Social and preventive 23
paediatrics
Objectives

At the end of this chapter, you should be able to


Understand the importance of prevention in child health.
Outline the current UK immunization schedule.
Know the contraindications to routine immunization in children.
Understand the importance of neonatal screening.
Recognize the different types of child abuse.
Outline the causes and prevention of sudden infant death syndrome.
Understand some of the legal issues pertaining to paediatrics.

This includes all aspects of promoting health and tion of many major diseases such as diphtheria and
preventing illness such as child health surveillance, polio, which killed or crippled millions of children,
immunization, health education and accident pre- and the complete eradication of smallpox. In recent
vention. In addition, community paediatric services times, the highly successful introduction of immu-
are closely involved with the problems of child nization against Haemophilus inuenzae type B (Hib)
abuse, adoption and foster care, and children with has dramatically reduced the incidence of invasive
special needs. Important legislation concerning chil- infections such as Hib meningitis and epiglottitis.
dren and health in the UK exists, in particular the Immunization is effective against major bacterial
Children Act and the Education Act. diseases, such as diphtheria and tuberculosis (TB),
and viral diseases, such as measles, mumps, rubella
and hepatitis. Bacille CalmetteGurin (BCG) vac-
PREVENTION IN CHILD HEALTH cination against TB is effective in some parts of the
world. However, a vaccine has yet to be developed
There remains a high level of morbidity from pre- against the important parasitic disease, malaria.
ventable conditions including:
Immunity: active and passive
Infectious diseases.
Congenital disorders. Immunity can be induced either actively (long term)
Accidents. or provided by passive transfer (short term) against
Malnutrition. a variety of bacterial and viral agents.
Smoking in teenagers. Active immunity is induced by using:

Strategies for prevention include: A live, attenuated form of the pathogen, e.g.
oral poliomyelitis vaccine (OPV), measles,
Immunization. mumps, rubella vaccine (MMR), BCG vaccine
Screening. for TB.
Child health surveillance. An inactivated organism, e.g. inactivated
Health promotion and education. poliomyelitis vaccine (IPV), pertussis.
A component of the organism, e.g. Hib,
Immunization pneumococcal vaccine, hepatitis B and
Immunization has probably conferred more benet meningitis C.
on the worlds children than any other medical An inactivated toxin (toxoid), e.g. tetanus
advance or intervention. It has allowed the preven- vaccine, diphtheria vaccine.

201
Social and preventive paediatrics

In many individuals, live, attenuated viral vaccines


promote a full, long-lasting antibody response after
one dose. Several doses of an inactivated version or
The timing of childhood immunization is
toxoid are usually required.
critical: too early and the immune
Passive immunity is conferred by the injection
response might be inadequate, too late
of human immunoglobulin. There are two main
and the child could acquire the disease before being
types:
protected.
Human normal immunoglobulin (HNIG).
Specic immunoglobulins for tetanus, hepatitis
B, rabies and varicella zoster (VZIG).
Indications and contraindications
Routes of administration are:
to immunization
By mouth: oral polio vaccine. Every child should be protected against infectious
Intradermal: BCG. diseases and a denial of immunization should not
Subcutaneous or intramuscular injection: all be allowed without serious consideration of the
other vaccines. consequences.
In infants, the upper outer quadrant of the buttock Special risk groups can be identied for whom
or the anterolateral aspect of the thigh are the rec- the risk of complications from infectious disease is
ommended sites for the injection of vaccines. high and who should be immunized as a priority.
These include children with:
Immunization schedule Chronic lung and congenital heart disease.
In the UK, the schedule for primary immunization Down syndrome.
has been changed recently to include pneumococcal HIV infection.
vaccine. This schedule provides earlier and more Low birth weight.
effective protection against haemophilus, pneumo- No spleen or hyposplenism.
coccal and pertussis infections, which are more dan-
General contraindications
gerous to the very young. Added benets have
These include:
included fewer side effects and better completion of
the full course. Acute illness with fever >38C: postpone until
The new schedule is shown in Fig. 23.1. recovery has occurred.

UK immunization schedule

Age Vaccine Comments

2 months DTaP/IPV/Hib; PCV (pneumococcal vaccine) 2 injections (DTaP/Hib/IPV is a 5 in 1 vaccine)

3 months DTaP/IPV/Hib; Men C 2 injections

4 months DTaP/Hib/IPV; Men C; PCV 3 injections

12 months Hib / Men C 1 injection

13 months MMR; PCV 2 injections

3 years 4 months to 5 years dTaP/IPV or DTaP/IPV and MMR 2 injections

1318 years Td/IPV 1 injection

Fig. 23.1 UK immunization schedule.

202
Prevention in child health 23

A denite history of a severe local or general Measles vaccination is contraindicated if there is


reaction to a preceding dose. allergy to neomycin. MMR is safe for those with
egg allergies. If there is concern, immunization
Live vaccines: special risk groups Live vaccines pose
should be given under hospital supervision.
a risk for certain individuals whose immunity is
Pertussis: it has never been conclusively
impaired. These include children:
demonstrated that this vaccine ever causes
Being treated with chemotherapy or permanent brain damage. The current acellular
radiotherapy for malignant disease. pertussis vaccine is safer than the previous
On immunosuppressive treatment after organ cellular vaccine. There are no specic
or bone marrow transplant. contraindications (in particular, a family or
On high-dose systemic steroids. personal history of epilepsy is not a
With impaired cell-mediated immunity, e.g. contraindication). Immunization is best delayed
severe combined immunodeciency syndrome in patients with progressive neurological disease
or Di George syndrome. until the condition is stabilized.
Children positive for antibodies to HIV, with or False contraindications
without symptoms, should be given all vaccines The following are not contraindications to
except BCG (there have been reports of dissemina- immunization:
tion of BCG in HIV-positive individuals), yellow
Family history of adverse reaction to
fever and oral typhoid.
immunization.
Prematurity.
Stable neurological conditions, e.g. cerebral
palsy.
Immunization should be postponed if Asthma, eczema, hay fever.
the child has an acute febrile illness. Under a certain weight.
Premature babies can be immunized Over the age recommended in standard
following the recommended schedule according schedule.
to chronological age, i.e. immunization should Minor afebrile illness.
not be postponed. Childs mother being pregnant.
Live vaccines are contraindicated in
Adverse reactions associated with specic vaccines
immunocompromised children.
are shown in Fig. 23.2.

Specic contraindications
Screening
Particular vaccines are contraindicated in certain An effective and worthwhile screening programme
circumstances: should satisfy certain criteria:

Fig. 23.2 Adverse reactions


Adverse reactions associated with specific vaccines associated with specic vaccines.

Vaccine Minor reaction Major reaction

Diphtheria/tetanus Local Neurological (very rare)

Pertussis Fever, crying Convulsions (1:300 000)


Encephalopathy (very rare)

Polio Vaccine-associated polio


(1 in 2 million)

MMR Fever, rash, arthropathy Encephalopathy (very rare)


Thrombocytopenia

BCG Local abscess Adenitis

203
Social and preventive paediatrics

The condition screened for should be an Assessment should also be made of the familys
important health problem. adjustment to the new infant, quality of parent
There should be a sensitive and specifc test. child interactions and signs of maternal
Treatment should improve the condition. depression.
It should be cost-effective.
The screening method should be acceptable to 69 months
child and parents.
Squint assessment.
Screening can be targeted at a high-risk population Distraction test for hearing.
or carried out opportunistically when a patient pres- Assess growth and development.
ents for some other reason at the relevant age. Anticipatory guidance on feeding, safety and
injury prevention, sleep habits.
Child health promotion
A programme of health surveillance is undertaken
1824 months
to identify important conditions that have a better This is done by the health visitor but in some areas
outcome if diagnosed and treated early (e.g. con- it is no longer performed.
genital dislocation of the hip and deafness). This
Assess development: conrm walking with
programme includes:
normal gait and age-appropriate vocalization
Neonatal examination. and language.
6-week check. Growth: height and weight.
69 month check. Anticipatory guidance on toilet training,
1824 month check. temperament and behaviour.
3642 month check.
3642 months
Neonatal examination This is a physical examination that aims to detect
Full physical examination looking for congenital health problems before school.
anomalies such as congenital dislocation of the
Growth: height and weight.
hips, undescended testes and absence of the red
Hearing and vision tests.
reex. Hearing is tested by otoacoustic emission
Developmental tests.
(and/or brainstem auditory evoked potentials in
some centres) in all babies in the rst few days.
Guthrie test: Usually between days 5 and 8, a
heel prick blood sample is taken to screen for phe-
CHILD ABUSE
nylketonuria cystic brosis and hypothyroidism.
Although it is probable that children have been
Screening for MCADD (medium chain acyl CoA
abused throughout history, it is only in the last few
dehydrogenase deciency) is done in certain
decades that the extent to which children can be
centres.
abused by their parents or carers has been recog-
nized. In the UK, one child in 2000 suffers severe
6-week check physical abuse and as many as 100 children are
Physical examination with emphasis on: killed each year. Several types of abuse are recog-
nized and these often occur together (Fig. 23.3).
Surveillance for congenital anomalies, e.g.
cardiac, undescended testes and dislocated
hips.
Diagnosis
Growth: weight, length and head Certain families and children are at particular risk.
circumference. Adults who abuse are often young, immature, iso-
Development: alert, makes eye contact, smiles lated, poor and subject to social or marital stress.
in response. Alcoholism, drug abuse and personality or psychi-
Vision and hearing (explore parental concerns). atric disorders (e.g. postnatal depression) might be

204
Child abuse 23

Types of abuse Features of non-accidental bruises

Physical (non-accidental injury) Any bruises in a (non-mobile) baby


Sexual Bruises on face, back, buttocks as opposed to forehead
Emotional and shins in toddler
Neglect Bruises in pattern of finger-tips, hand-print, belt
Munchause