Pediatrics - Michael Grant

Paediatrics
Michael Grant
Notes based on QUB online Med Portal lectures, QUB student manual, NICE Guidelines,
Oxford Clinical handbook and various external online resources
Michael Grant
Paediatrics: Page 2 of 78
A) Four Basic Paediatric Skills:
• How to pick up and hold a baby
• Taking a paediatric history (different emphasis to adults)
Introduce yourself – name / role

Confirm patient details – name / DOB
Explain the need to take a history
Gain consent to take a history
Ensure the patient is comfortable
Presenting complaint
Give the patient time to explain the problem/symptoms they’ve been experiencing.
In a paediatric history this may well be a collateral history from a parent.
It’s important to use open questioning to elicit the patient’s or parent’s presenting complaint.
“So what’s brought your child in today?” or “What’s brought you in today?”
This can sometimes be difficult when talking to children and you may need to adopt an approach involving more direct
questioning. So instead of saying “Tell me about the pain” you may need to ask a series of questions requiring only yes or no answers.
“Is the pain in your tummy?” “Is the pain in your back?”
Allow the patient time to answer and do not interrupt.
History of presenting complaint

Onset – when did the symptom start? / was the onset acute or gradual?
Duration – minutes / hours / days / weeks / months / years
Severity – e.g. if symptom is shortness of breath – are they able to talk in full sentences?
Course – is the symptom worsening, improving, or continuing to fluctuate?
Intermittent or continuous? – is the symptom always present or does it come and go?
Precipitating factors – are there any obvious triggers for the symptom?
Relieving factors – does anything appear to improve the symptoms e.g. an inhaler
Associated features – are there other symptoms that appear associated e.g. fever / malaise
Previous episodes – has the patient experienced this symptoms previously?
Key paediatric questions

Feeding – volume of intake / frequency of feeding
Vomiting – frequency / volume / timing – projectile? / bilious? / blood?
Fever – confirmed using thermometer vs subjectively feeling hot?
Wet nappies / urine output – number of wet nappies a day – ↓ in dehydration
Stools – consistency / steatorrhoea? (biliary obstruction) / red currant jelly (intussusception)
Rash – any obvious trigger? / distribution? / blanching?
Behaviour – irritability / less responsive
Cough – productive? / associated increased work of breathing?
Rhinorrhoea – often associated with viral upper respiratory disease
Weight gain or loss – check baby book if the parent has it with them
Sleeping pattern – more sleepy than usual?
Unwell contacts – often children become infected from unwell siblings
Localising symptoms – tugging at an ear/ holding tummy
Pain – if pain is a symptom, clarify the details of the pain using SOCRATES
◦ Site – where exactly is the pain / where is the pain worst
◦ Onset – when did it start? / did it come on suddenly or gradually?
◦ Character – what does it feel like? (sharp stabbing / dull ache / burning?)
◦ Radiation – does the pain move anywhere else? (e.g. chest pain with left arm radiation)
◦ Associations – any other symptoms associated with the pain (e.g. chest pain with SOB)
◦ Time course – does the pain have a pattern (e.g. worse in the mornings)
◦ Exacerbating / relieving factors – anything make it particularly worse or better?
◦ Severity – on a scale of 0-10, with 0 being no pain & 10 being the worst pain you’ve ever felt
Ideas, Concerns & Expectations – often addressed to parents

Ideas – what are the patient’s / parent’s thoughts regarding their symptoms?
Concerns – explore any worries the patient / parent may have regarding the symptoms
Expectations – gain an understanding of what the patient / parent is hoping to achieve from the consultation
Summarising
Summarise what the patient / parent has told you about the presenting complaint.
This allows you to check your understanding regarding everything the patient/parent has told you.
It also allows the patient/parent to correct any inaccurate information & expand further on certain aspects.
Once you have summarised, ask the patient/parent if there’s anything else that you’ve overlooked.
Continue to periodically summarise as you move through the rest of the history.
Michael Grant
Signposting
Signposting involves explaining to the patient/parent:
◦ What you have covered – “Ok, so we’ve talked about the symptoms””
◦ What you plan to cover next – “Now I’d like to discuss any previous medical history”
Past medical history

Antenatal period – illnesses or complications during gestation – e.g. rubella
Birth – delivery complications / prematurity / birth weight
Neonatal period – illness /admission to special care baby unit (SCBU)?
Medical conditions
Previous hospitalisation – when and why?
Previous surgery
Accidents & injuries – remain vigilant for signs of non accidental injury
Developmental history
Current weight and height – weight is required to calculate drug doses
Developmental milestones (are they on track for their given age?):
◦ e.g. sitting up, crawling, walking, talking, toilet training, reading
Family history
Family history of disease – e.g. coeliac / T1DM
Genetic conditions – e.g. cystic fibrosis
Family tree – useful to draw out if considering genetic disease
Drug history
Regular medication – e.g. inhalers for asthma
Over the counter medication
ALLERGIES
Immunisations - Is the child up to date with their immunisations?
Social history
Living situation + Social services – accommodation / main carer / who lives with child?
Second hand smoke exposure – risk factor for otitis media / asthma / SIDS
Dietary history
• Type of food? – formula / breast milk / solids
• Intake – e.g. how many ounces of milk?
• Frequency of feeding – reduced or increased?
• Special dietary requirements? – cow’s milk intolerance / coeliac disease
Parents occupation
Pets – important when considering allergies / asthma triggers
Schooling – stage of learning / any issues?
Foreign travel – may be important when considering certain diagnoses e.g. TB
Systemic enquiry
Top to bottom:
CNS – Vision / Headache / Motor or sensory disturbance/ Loss of consciousness / Confusion
GI – Appetite / Nausea / Vomiting / Indigestion / Dysphagia / Weight loss / Abdominal pain / Bowel habit
Cardiovascular – Chest pain / Palpitations / Dyspnoea / Syncope / Orthopnoea / Peripheral oedema
Respiratory – Dyspnoea / Cough / Sputum / Wheeze / Haemoptysis / Chest pain
Urinary – Volume of urine passed / Frequency / Dysuria / Urgency / Incontinence
Musculoskeletal – Bone and joint pain / Muscular pain
Dermatology – Rashes / Skin breaks / Ulcers
• Clinical examination - gaining maximum information with minimum upset (including normal
neonate, infant, dysmorphic child, developmental assessment, ENT, eyes for squint). How to
modify systematic examination of CVS, RS, GIT, CNS, PNS in light of child’s age, ability to
understand and co-operate, and the relevance of signs at different ages.
• Learn to:
o Understand the anxieties and worries parents have about their ill children.
o develop the ability to show parents that you understand and grasp what they perceive
to be the problem.
o develop communication skills that will allay fears or convey information in a way that is
understood by parents and by children.
Michael Grant
Child Abuse and Neglect
Physical abuse:
Physical abuse may involve hitting, shaking, throwing, poisoning,
burning or scalding, drowning, suffocating, or otherwise causing
physical harm to a child.
Factors to consider in the presentation of a physical injury are:

• The history given by the child (if they can communicate)
• The child’s age and stage of development
• The plausibility and/or reasonableness of the explanation for
the injury
• Any background, e.g. previous child protection concerns,
multiple attendances to A&E or general practitioner
• Delay in reporting the injury
• Inconsistent histories or reactions from caregiver (e.g. vague,
evasive, aggression)
Investigations:
• X-rays
o If under 30 months, full radiographic skeletal
survey with oblique views – esp. posterior ribs
o Repeat x-ray at 1-2 weeks later
• Bruising:
o Rule out coagulation disorders
o Be aware of Mongolian blue spots on back or
thighs
o The age of a bruise cannot be accurately estimated
o Can be hard to detect on dark skinned children
• Fractures:
o Exclude osteogenesis imperfecta – type 1 causes #, autosomal dominant,
blue sclerae, wormian bones in skull sutures
• Scalds and cigarette burns
o Exclude bullous impretigo (Staph aureus scalded skin syndrome)
• Head and neck trauma:
o Extra dural (direct trauma) Subdural (shearing, shaking trauma +/- retinal
haemorrage) or subarachnoid (retinal bleeds, aneurysm) bleeds
o Retinal haemorrhages or injury to the eye in a child if there is no major
confirmed accidental trauma
• RECORDING:
o Make sure to clearly document any injuries, the histories and – if consenting –
photographic evidence
o Discuss with senior paediatrician
Sexual abuse:
Involves forcing or enticing a child or young person to take part in sexual activities, including prostitution, whether or not the child is aware
of what is happening. The activities may involve physical contact, or noncontact activities, such as involving children in looking at or
producing pornographic material.
• Recognition can occur when: child informs someone, becomes pregnant (automatically sexual absuse if girl >13 years), STI with no clear
reason (although they can be contracted from mother during birth)
• Physical symptoms: vaginal/rectal bleeding
• Behaviour symptoms: soiling, secondary enuresis, self harm, sexualised behaviours, poor school
performance
• Signs:
o Can be difficult to find as gential area heals very quickly in young children
o STI screening
o Forensic swabs of body, clothing, bedding for semen
Emotional abuse:
Is the persistent emotional maltreatment of a child resulting in severe and persistent adverse
effects on the child’s emotional development. It may involve conveying to children that they are
worthless or unloved, inadequate, or valued only insofar as they meet the needs of another
person. This may arise form the fact the child is seen as the “wrong” gender, born at a time of parental
separation or violence, r is seen as unduly difficult.
• Clues come from child’s behaviour:
o Babies:
§ Apathetic, delayed development, nondemanding
Michael Grant
§ Described by the mother as ‘spoiled, attention seeking, in control, not loving her’.
o Toddlers and preschool children:
§ Violent, apathetic, fearful.
o School children:
§ Wetting, soiling, relationship dif culties, nonattendance, antisocial behaviour.
o Adolescents:
§ Selfharm, depression, oppositional, aggressive and delinquent behaviour
Neglect:
Is the persistent failure to meet a child’s basic physical and/or psychological needs; i.e. food, clothing, shelter, supervision
Consider the possibility of neglect when the child:
• Consistently misses important medical appointments
• Lacks needed medical or dental care, immunisations or glasses
• Seems ravenously hungry
• Is dirty
• Is wearing inadequate clothing for weather
Or if parent:
• Appears to be indifferent to the child
• Seems apathetic or depressed
• Behaves irrationally or in a bizarre manner
• Is abusing alcohol or other drugs.
Fabricated or induced illness:

Refers to parents (or carers), but usually the mother (>80%), which cause harm to children. It fulfils the parents (or carers) own needs.
Organic illness may coexist clouding the picture but clues include frequent unexplained illnesses and multiple hospital admissions with
symptoms that only occur in the carer’s presence and are not substantiated by clinical findings. It may consist of;
• Verbal fabrication – parents fabricate (i.e. invent) symptoms and signs in the child, telling a false story to healthcare professionals
• Induction of illness may involve: suffocation, poisoning (drugs, ordinary substances e.g. salt)
Management:
• Any injuries or medical findings should be carefully noted, measured, recorded and drawn on a body map and photographed
• If abuse is suspected or confirmed, a decision needs to be made as to whether the child needs immediate protection from further
harm – this can be achieved by hospital admission – occasionally this will require legal enforcement
• If treatment is not necessary but felt to be unsafe for the child to return home, a placement may be found in a foster home
• The safety of any other siblings or children at home must be considered
Cardiology
Important Presenting Symptoms and Signs in Cardiology
You should be able to list the 3-4 commonest causes of these symptoms/signs at various ages and be able to differentiate these (by
features and investigations):
Tachycardia
Murmurs
Cyanosis
Heart failure
The Spectrum of Clinical Conditions in Cardiology
You should be able to describe - aetiology, presentation, natural history, signs, diagnosis and basic management of an
infant/toddler/older child with:
◦ Congenital heart disease - describe anatomical and physiological basis for pathology and physical signs
◦ Heart failure
◦ Innocent versus pathological asymptomatic murmurs
◦ SBE
◦ Rheumatic fever
◦ Kawasaki syndrome
◦ Cardiomyopathy
Practical skills
◦ Cardiovascular examination
◦ Blood pressure measurement
◦ Recognise heart sounds/murmurs
◦ Recognise signs of heart failure
Michael Grant
Genetic conditions affecting the heart:

• Trisomies:
o 21 – Down’s sundrome – 40% with
cardiac abnormalities
§ Atrioventricular septal defect,
VSD
o 13 (Patau’s), 18 (Edward’s) - >50% with
cardiac abnormalities
• Turner’s syndrome (Monosomy 45 – XO) – left heart
problems; bicuspid aortic valve and coarctation of
the Aorta
• 22q11 deletion (DiGeorge syndrome) – dominant
inheritance
o Cardiac abnormality (commonly
interrupted aortic arch, truncus
arteriosus [embryological structure
known as the truncus arteriosus fails to
properly divide into the pulmonary
trunk and aorta] and tetralogy of Fallot
[Pulmonary Infundibular Stenosis,
overriding aorta, VSD, right ventricular
hypertropy)
o Abnormal facies
o Thymic aplasia
o Cleft palate
o Hypocalcemia/Hypoparathyroidism
• Noonan’s syndrome is one of the most common
causes of cardiac defects
o Autosomal dominant congenital
disorder
o The principal features include
congenital heart defect (typically
pulmonary valve stenosis; also atrial
septal defect and hypertrophic
cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic
configuration of facial features including a webbed neck and a flat nose bridge
Fetal circulation:
• Oxygenated blood form the placenta enters umbilical
vein and mostly bypasses the liver using the ductus
venosus
• From here it enters the vena cava and travels into the
heart where it mostly bypasses the pulmonary
circulation via the foramen ovale – into the left atrium
• Blood that does enter the pulmonary artery from the
right ventricle also passess though the ductus
arteriosus to reenter systemic circulation
• Deoxygenated blood returns to the placenta via the
umbilical arteries that branch off from the internal iliac
Michael Grant
Transitional from fetal to baby circulation:

• Pulmonary vascular resistance decreases (first few breaths x6 blood flow) while systemic vascular resistance increases - Causes closure of:
o Ductus arteriosus, to ligamentum arteriosum
o Ductus venosus to ligamentum to venosum
o Foramen ovale closes as left atrial pressure increases, becoming the fossa ovalis
Cardiac malformations:
These can be abnormal connections, holes or obstructions that are described as either cyanotic or acyanotic:
Cyanotic (right to left) conditions produce blue babies that can

be remembered by the 5 T’s:
• Transposition of the great arteries (TGA)
o Due to ventriculo‐atrial discordance, with the aorta
arising from the right ventricle and the pulmonary
trunk arising from the left ventricle. The pulmonary
and systemic circulations are thereby completely
separate and without some form of septal defect to
allow mixing of oxygenated and deoxygenated
blood, the condition is rapidly fatal
o Maintaining the patency of the ductus arteriosus with a prostaglandin

infusion (PGE2, 5-20 ng/kg per min) is mandatory
o Correct acidosis
o If the infant does not have an ASD, VSD, PFO or PDA, the cardiologists
will perform an emergency balloon atrial septostomy to create a large
ASD and allow the blood to mix.
o Definitive anatomical correction is the surgery of choice (arterial switch
operation)
o Egg on a string appearance on x-ray
• Tetralogy of fallot
o Characterised by a VSD, aortic overriding of the septal defect, right
ventricular outflow tract obstruction (which may be sub, supra or
valvular) and consequent right ventricular hypertrophy
§ Extreme form know as pulmonary atresia, pulmonary valve is
not open or does not form
§ At birth, some infants do not show signs of cyanosis, but they may
later develop episodes of bluish pale skin during crying or feeding
(ie, "Tet" spells) – they may squat to compensate (increases PVR
and thus reduces right to left shunting)
§ Cyanosis of the lips and nail bed is usually pronounced at birth;
after age 3-6 months, the fingers and toes show clubbing
§ CXR shows a boot shaped heart (severe RVH) with apex lifted off
diaphragm with dark lung fields from reduced pulmonary blood
flow
§ Maintaining the patency of the ductus arteriosus with a
prostaglandin infusion (PGE2, 5-20 ng/kg per min) is mandatory
§ Correct acidosis
§ If the infant does not have an ASD, VSD, PFO or PDA, the
cardiologists will perform an emergency balloon atrial
septostomy to create a large ASD and allow the blood to mix.
• Total anomalous pulmonary venous drainage (TAPVD)
o A form of congenital cyanotic heart disease, whereby the pulmonary veins drain into venous structures other than the left
atrium
o Location of anomalous drainage can be supracardiac, intracardiac or infracardiac
o Oxygenatied blood drains into right side of heart
• Trunus arteriosus
o Failure of separation between pulmonary artery and aorta, resulting in a common truck
o Typically overlies a ventricular septal defect causing mixing of blood
• Tricuspid atresia
o Tricuspid valve doesn’t form meaning that blue blood from the right side must cross atrial septum into left
atrium
o Only the left ventricle is effective, the right being small and nonfunctional.
o A Blalock–Taussig shunt insertion (between the subclavian and pulmonary artery) in children who are
severely cyanosed, acts as artificial ductus artriosus
o Pulmonary artery banding operation to reduce pulmonary blood flow if breathless.
Acyanotic (Left to right) produce breathless babies:
• VSD/ASD
o Secundum atrial septal defect:
Michael Grant
§ Very well tolerated and often not detected until late in life
§ Arises from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive
absorption of the septum primum
§ Left to right flow from atria causes gradual enlargement of right atrium, ventricle and pulmonary
artery
§ Heard as slight ESM and pronounced AP split due to increased length of time for drainage of right
side (that doesn’t not vary with respiration)
o Ventricular septal defect (up to 5% of new borns)
§ Typically cause increase flow from left ventricle into pulmonary artery, thus increase pulmonary
venous return that can lead to left side hypertrophy
§ Large VSD cause cardiac decompensation or heart failure – not due to pump failure – but due to
high output state that circulates significant amount of blood right back into left side
§ Pansystolic murmur as both in systole and diastole there is a gradient in pressure between the
ventricles (25/5 in RV, 120/80 in Aorta, 120/5 in LV)
o Treatment:
§ Diuretic (e.g. furosemide/spironolactone combo to spare potassium)
§ Vasodilators (e.g. captopril)
§ Additional calorific support
§ Early surgery (at 3-6 months to prevent prolonged pulmonary hypertension from damaging
capillary bed, increasing resistance and leading to Eisenmenger syndrome - hunt reverses and the teenager
th th
becomes blue, leading to progressive right heart failure and death in 4 /5 decade)
• Inhaled nitric oxide, intravenous magnesium sulphate and oral phosphodiesterase inhibitors (e.g.
sildenafil a.k.a. Viagra) will help to reduce pulmonary hypertension while waiting for transplant
• PDA
o Ductus arteriosus between pulmonary artery and aorta has
failed to close by 1 month after the expected date of delivery
due to a defect in the constrictor mechanism of the duct
o Creates a continuous murmur due to constant gradient in
pressures between aorta and pulmonary arties during both
systole and diastole
o Closure is with a coil or occlusion device introduced via a
cardiac catheter at about 1 year of age
• PS
• Duct dependant left heart obstruction
o AS
o Coarctation
o Hypoplastic left heart syndrome
o Treatment:
§ Prostaglandin E2 infusion (5-20ng/kg/min)
§ Palliation balloon septostomy
§ Consider inotrope (e.g. dobutamine – B1 agonist)
§ In HLHS, maintain mild respiratory acidosis
Common mixing defects produce breathless and blue babies:

• Complete atrio-ventricular septal defect
o Common in Down’s syndrome – most common setting to see this defect
o Centre of heart is open (lower atrial septum, upper ventricular septum) creating left to right flow
o Management is to treat heart failure medically (as for large VSD) and surgical repair at 3–6 months
of age.
Signs of “heart
failure” in infants
and small children:
• Tachypnoea (can be greater than 60/min)
• Tachycardia
• Hepatic enlargement
• Peripheral oedema tends to be a very late sign
• JVP not reliable in <6 y.o.
The features of an innocent murmur can be remembered as the four S’s:

• Soft (grade 3 or less, with no clicks)
Michael Grant
• Systolic (athough venous hum heard at the base of the neck and resolves upon child rotating head is also innocent)
• aSymptomatic (may be pyrexial but will have normal ECG and CXR)
• left Sternal edge
Rheumatic fever
• In susceptible individuals, there is an abnormal immune response to a
preceding infection with group A βhaemolytic streptococcus esp.
strept pyogenes.
• After a latent interval of 2–6 weeks following a pharyngeal infection,
polyarthritis, mild fever and malaise develop
• Chronic rheumatic heart disease: The most common form of
longterm damage from scarring and fibrosis of the valve tissue
of the heart is mitral stenosis most frequently affected; however
aortic, tricuspid and, rarely, pulmonary valve disease may occur.
• Management: The acute episode is usually treated with bed rest and
antiinflammatory agents
o Aspirin high dose with drug level monitoring
o Monthly injections of benzathine penicillin is the most
effective prophylaxis until 18-21 y.o.
Infective endocarditis
All children of any age with congenital heart disease (except secundum
ASD), including neonates, are at risk of infective endocarditis
• Highest when there is a turbulent jet of blood, as with a VSD,
coarctation of the aorta and persistent ductus arteriosus or if
prosthetic material has been inserted
Should be suspected in any child or adult with a sustained fever, malaise, raised ESR, unexplained anaemia or haematuria
(microscopic)
• Clinical signs
o Fever
o Anaemia and pallor
o Splinter haemorrhages in nail bed
o Clubbing (late)
o Necrotic skin lesions
• Diagnosis
o Multiple blood cultures
o Echocardiography may confirm presence of vegetations (fibrin and platelets and contain infecting organisms)
• Most common causative organism is αhaemolytic streptococcus (Streptococcus viridans)
• Highdose penicillin in combination with an aminoglycoside, giving 6 weeks of intravenous therapy
• Prophylaxis good dental hygiene
Cardiomyopathy
• Dilated cardiomyopathy (a large, poorly contracting heart) may be inherited, secondary to metabolic disease or may result from a direct
viral infection
• The diagnosis is readily made on echocardiography
• Treatment is symptomatic with diuretics and ACE inhibitors and carvedilol (βadrenoceptor blocking agent)
Kawasaki disease (KD) is a systemic vasculitis and important

diagnosis to make because aneurysms of the coronary
arteries are a potentially devastating complication.
Subsequent narrowing of the vessels from scar formation
can result in myocardial ischaemia and sudden death
• Exact cause is unknown but result of immune
hyperreactivity to a variety of triggers
• Aetiology:
o Affects children of 6 months to 4 years old,
younger get worse disease
o More common in Japanese and afro-carribean
o Linked to mutations of ITPKC gene (down
regulates T-cell activation)
• Clinical features
o Kawasaki is a type of motorcycle:
o CRASH and BURN
o Conjuctivitis, rash (esp. hands and feet),
adenitis, strawberry tounge, hands
(desquatmation)
o Prolonged fever >5 days and four other
features of:
Michael Grant
§ Nonpurulent conjunctivitis, red mucous membranes (+/- strawberry tongue), cervical lymphadenopathy, rash, red
and oedematous palms and soles or peeling of fingers and toes
o Inflammation of their BCG vaccination site
• Investigations:
o High inflammatory markers (Creactive protein, ESR, white cell count)
o Echocardiogram (look at coronary arteries and repeat at 6 weeks)
• Treatment:
o Intravenous immunoglobulin (IVIG) given within the first 10 days
o Aspirin is used to reduce the risk of thrombosis at a high antiinflammatory dose until the fever subsides
o Large coronary artery aneurysms may require long-term warfarin
o Persistent inflammation and fever may require treatment with infliximab
Dermatology
You should be able to confidently describe a rash. Note its location, distribution, size, shape, colour and appearance. Revision of
dermatological terms:
Macule: <1cm circumcised flat area of discoloration
Patch: Larger flat area of discoloration
Papule: Raised palpable area (small <1cm)
Plaque: Large raised disc lesion
Nodule: Palpable lesion >1cm diameter
Vesicle: Small blister <0.5cm
Bulla: Blister >0.5cm
Pustule: Blister with visable pus
Purpura: Red/ purple non blanching discoloration secondary to extravasation of red cells
Petechia: Purpuric area <2mm
Telangiectasia: Dilated, visible small blood vessels
Wheal: Itchy papule
You will remember the ABCDE description of a Pigmented Lesion from your 3rd year Dermatology Teaching and you should practice
using this model again during your Paediatrics module.
◦ Asymmetry
◦ Irregular Border
◦ Two or more Colours within the lesion
◦ Diameter > 6mm
◦ Evolution of the lesion (history of change)
The Spectrum of Clinical Conditions in Dermatology
You should be able to describe - aetiology, presentation, natural history, signs, diagnosis and basic management of common skin
problems in Paediatrics:
◦ Napkin rash
◦ Seborrhoea
◦ Atopic eczema
◦ Thrush
◦ Scabies
◦ Herpes simplex
◦ Impetigo
Practical Skills
Examine and describe a rash or lesion
Neonatal urticaria (erythema toxicum) – a common rash appearing at 2–3 days of age, consisting of
white pinpoint papules at the centre of an erythematous base.
• The fluid contains eosinophils.
• The lesions are concentrated on the trunk; they come and go at different sites
• Typically resolves by 10 days
Milia – white pimples on the nose and cheeks, from retention of keratin and sebaceous material in the
pilaceous follicles.
• 1-2mm cysts that typically occur on nose, cheeks and nose
• Spontaneously exfoliate in first weeks
Neonatal acne considers of papules that develop into pustules and are distributed on the face, neck and
chest
• Caused by trans-placental transfer of androgens
• Onset in neonatal period but my last several months
• Usually resolves spontaneously but may require topical anti-fungals
Birthmarks:
• Vascular:
o Tumours: e.g. Infantile haemangioma
§ Benign vascular tumours that affect up to 5% that appear in first few weeks as
macule and quickly grow
Michael Grant
§ If superficial: bright red plaque with telangiectasia
§ If deep: blue/purple swelling that is poorly defined
§ Typically resolves spontaneously over the years but treatment is
required in 2% when issues arise like:
• Ulceration and bleeding
• Functional abnormality – e.g. blockage at eye or nose
• Disfigurement may occur at nasal tip, ears and lips
• Can be associated with internal structural abnormalities
(esp. if multiple or linear distribution)
• If large, can cause high output heart failure
§ Rx: Oral propranolol
o Vascular malformations; caused by dilated small vessels (superficial for
salmon, deeper for port wine)
§ Port wine stains commonly involve a trigeminal nerve distribution;
those following V1 can have an ipsilateral leptomeningeal angioma
as well (as the possibility of glaucoma or choroidal lesions,
Calcification of the gyri used to show characteristic ‘rail-road track’ cal-
cification) known as Sturge-Weber syndrome
§ Severe lesions on the limbs with bone hypertrophy (Klippel–
Trenaunay syndrome)
§ Rx: Laser
• Pigmented birthmarks:
o Congenital melanocytic naevi (1% of population)
§ Present at birth Salmon patch
§ Pale to dark macules that become darker and elevated in adolescence
§ Typically have hair
§ Most are benign and asymptomatic and grow with child
§ Large >20cm have 5% risk of melanoma and need follow-up
o Café au lait macules are well circumscribed, uniform, light brown patches
§ If multiple, may indicate underlying genetic condition such as
neurofibromatosis type 1
• 17 letter = Chromosome 17
• Seen with macrocephaly and lisch nodules (in the eyes)
• Autosomal dominant
o Mongolian spot or congenital dermal melanocytosis
§ Abnormal collection of melanocytes
§ Common in Asian, black and Hispanic
§ Poorly a solitary, well circumscribed, large, dark macular areas in the lumbo-sacral
region
§ Usually fade by 10 y.o. and do not require Rx
• Epidermal:
o Epidermal naevus is pigmented but is not melanocyte
§ Overgrowth of the epidermis, making it appear dark
§ Circumscribed, brown, velvet-like plaque
§ Becomes wart-like with age
Eczema/Dermatitis
Atopic eczema
• Affects about 20% of children in the UK, starting in first year of life, and is
due to genetic deficiency of skin barrier function
• Usually family history of atopic disorders: eczema, asthma, allergic
rhinitis (hay fever) and around one-third of children with atopic eczema
will develop asthma.
• Troublesome in the first year of life but resolves in 50% by 12 years of
age, and in 75% by 16 years.
• Distribution changes from infant to toddler stage (see right)
• Diagnosis made clinically but if tested, most affected children have an
elevated total plasma IgE level
o If history suggests a particular allergic cause, skin-prick and
radioallergosorbent (RAST) tests
• Clinical features:
o Itching (pruritus) is the main symptom and results in scratching
and exacerbation of the rash
§ Acute: Excoriated areas become erythematous,
weeping and crusted (from dried serous exudate)
§ Chronic: Lichenification (accentuation of the normal skin markings) +/-
hyper/hypo-pigmentation
§ Can readily become infected:
• Staphylococcus or Streptococcus releases superantigens which seem
to maintain eczema
Michael Grant
• Herpes simplex virus infection, although less frequent, is potentially very serious as it can spread rapidly on
atopic skin, causing an extensive vesicular reaction, eczema herpeticum
• Management:
o Conservative:
§ Avoiding irritants and precipitants, e.g. soap, synthetic fabrics, wool
§ Nails need to be cut short/mittens at night
§ Emollients – such as white soft paraffin and liquid paraffin ointments applied
liberally two or more times a day and after a bath can replace the skin barrier; the
greasier the better
§ Occlusive bandages these are helpful over limbs when scratching and
lichenification are a problem. They may be impregnated with zinc paste or zinc
and tar paste. The bandages are worn overnight
§ Dietary elimination esp. egg cows milk and peanut if shown to cause flairs
o Medical:
§ Topical corticosteroids: mild 1% hydrocortisone ointment, can be applied to the eczematous areas twice daily, with
stronger preparations restricted to acute exacerbations
• Risk of skins thinning and systemic effects (cushings)
o Use “finger tip units” – amount of steroid cream squeezed in a line along the distal phalanx should
be enough to treat the surface area of the hand
• Avoid face with moderate preparations
§ Calcineurin inhibitors: Immunomodulators in children over 2 years old, short-term topical use of tacrolimus where
there is risk of important adverse effects from further topical steroid use – only prescribed by dermatologically
experienced clinician
§ Oral antihistamine can be used for short bursts to control itch
§ Antibiotics or antiviral agents should be reserved for when there is clinical
evidence of infection; e.g. weepy/crusting in bacterial, painful vesicles/ulcers in
viral
• Antibiotics with hydrocortisone can be applied topically for mildly
infected eczema
• Systemic antibiotics are indicated for more widespread or severe
infection
• Eczema herpeticum is treated with systemic acyclovir and may require
admission for IV treatment
o Psychosocial - National Eczema Society provides support and education about the disorder
Seborrhoeic eczema
Eruption of unknown cause presents in the first 2 months of life, that occurs on area with many sebaceous
glands – scalp, face, neck, armpits and diaper area.
• The scales form a thick yellow adherent layer, on the scalp - as an erythematous scaly eruption
with greasy, yellow-orange patches - commonly called cradle cap
• May spread to the face, behind the ears and then extend to the flexures and napkin area
• Unlike eczema it is not itchy and child is unperturbed by it
• Treatment:
o Mild cases will resolve with emollients
o Scales on the scalp treated by ointment containing sulphur and salicylic acid applied to
the scalp daily for a few hours and then washed off
o Shampoos containing ketoconazole
o Widespread body eruption will clear with a mild topical corticosteroid
Napkin dermatitis.
• Irritant/ammonia dermatitis, the most common napkin rash (although much less of a problem with use
of absorbent disposable nappies)
o May occur if nappies are not changed frequently enough or if the infant has diarrhoea but can
occur if cleaned regularly
o The rash is due to the irritant effect of urine and feaces on the skin of susceptible infants, that
act to impair barrier function:
§ Warm moist environment
§ Friction
§ Proteases from stool
§ Urea-splitting organisms in faeces increase the alkalinity of
urine and likelihood of a rash.
o The irritant eruption affects the convex surfaces of the groin but the flexures
are spared, which differentiates it from other causes of napkin rash
o The rash is erythematous and may have a scalded appearance
§ More severe forms are associated with erosions and ulcer
formation
o Treatment:
§ Mild cases respond to the use of a protective emollient (Sudocream)
§ More severe cases may require mild topical corticosteroids
Michael Grant
§ While leaving the child without a napkin will accelerate resolution, it is rarely practical at home.
o Candida infection may cause and often complicates napkin rashes. The rash is erythematous, includes the skin flexures and
there may be satellite lesions/pustules.
§ Swab for testing
§ Treatment is with a topical antifungal agent e.g. Nystatin, clotrimazole
Bacterial infections:
• Impetigo
o This is a localised, superficial, highly contagious, staphylococcal and/or streptococcal
skin infection,
o Lesions are usually on the face, neck and hands and begin as erythematous macules
which may become vesicular/pustular or even bullous
o Exudation of fluid leads to the characteristic confluent honey-coloured crusted
lesions, that readily spread to adjacent areas and other parts of the body by
autoinoculation of the infected exudate
§ Swab for C&S
§ Increased risk with pre-existing skin disease, e.g. atopic eczema
§ Not go to nursery or school until the lesions are dry due to contagiousness
o Topical antibiotics (e.g. mupirocin - binds to the isoleucyl t-RNA synthetase in Staphylococcus aureus and Streptococcus,
resulting in inhibition of protein synthesis) are sometimes effective for mild cases.
§ However, narrow-spectrum systemic antibiotics (e.g. flucloxacillin) may be required
o Nasal carriage is an important source of infection which can be eradicated with a nasal cream containing mupirocin
• Scalded skin syndrome

o This is caused by an exfoliative staphylococcal toxin (exfoliatin A & B from Staph aureus)
which causes separation of the epidermal skin through the granular cell layers (break apart
desmosomes)
§ Important to consider in ?NAI
o Fever and malaise and may have a purulent, crusting, localised infection around the eyes,
nose and mouth with subsequent widespread erythema and tenderness of the skin
§ Blister, initially in the flexors, spreads over body
o Epidermis separate on gentle pressure (Nikolsky sign), leaving denuded areas but heals
without scarring
o IV Penicillin, analgesia, emollients and monitoring of fluid balance
Viral infections:
• Viral warts (HPV)
o These are caused by the human papillomavirus, of which there are well over 100 types
o Spread from direct, person-to-person contact or contact with infected surfaces
o Warts are common in children, usually on the fingers, knees and soles (verrucae) and most
disappear spontaneously over a few months or years
o Treatment is only indicated if the lesions are painful or are a cosmetic problem; daily
application of a proprietary salicylic acid and lactic acid paint or glutaraldehyde (10%) lotion
can be used.
§ Cryotherapy with liquid nitrogen is effective treatment but can be painful and often
needs repeated application, and its use should be reserved for older children.
• Molluscum contagiosum
o This is caused by a poxvirus and the lesions are small, skin- coloured, pearly papules with
central umbilication
o They may be single but are usually multiple lesions that are widespread but tend to disappear
spontaneously within a year
o Treatment can exacerbate scarring but, if necessary, a topical anti-bacterial can be applied to
prevent or treat secondary bacterial infection, and cryotherapy (2–3 s only) can be used in
older children, away from the face, to hasten the disappearance of more chronic lesions
• The human herpesviruses after primary infection, have a latency and there is an established
long-term persistence of the virus that can be reactivated after specific stimuli
• Herpes simplex virus (HSV) usually enters the body through the mucous membranes or
skin with the primary infection may be associated with intense local mucosal damage.
o HSV1 is usually associated with lip and skin lesions, and HSV2 with genital lesions
o If severe, Rx: Aciclovir, a viral DNA polymerase inhibitor
§ Local infections: topical aciclovir
§ Wide-spread infections: Systemic aciclovir +/- admission
o Presentations can be:
§ Asymptomatic
§ Cold sores
§ Gingivostomatitis in those 10 months to 3 years of age. There are vesicular
lesions on the lips, gums and anterior surfaces of the tongue and hard palate
Michael Grant
with high fever and lymphadenopathy lasting up to 2 weeks. Eating and drinking are painful which can lead to
dehydration - necessitate IV fluids and aciclovir
§ Skin manifestations
• Eczema herpeticum – wide-spread vesicular lesions develop on eczematous skin and can cause secondary
bacterial infection, which may result in septicaemia.
• Herpetic whitlows – These are painful, erythematous, oedematous white pustules on the site of broken skin
on the fingers beside nails
§ Eye disease - blepharitis or conjunctivitis that may extend to involve the cornea, producing dendritic ulceration.
This can lead to corneal scarring which can lead to loss of vision – examination by slit lamp required
§ Central nervous system infection in the Neonatal setting – The infection may be focal, affecting the skin or eyes or
encephalitis or may be widely disseminated. Its morbidity and mortality are high
• Chickenpox (primary varicella zoster infection)

o Clinical features to the right
o The concurrent presence of multiple types of
lesions in crops is classical – typically
o Secondary bacterial infection may lead to
further complications such as toxic shock
syndrome or necrotising fasciitis
o Encephalitis that has prognosis is good. Most
characteristic is a VZV-associated cerebellitis,
seen as ataxia with cerebellar signs. It usually
resolves within a month.
o Purpura fulminans is the consequence of
vasculitis in the skin due to production of
antiviral antibodies which cross-react and
inactivate the coagulation factor protein S. There
is subsequent dysregulation of fibrinolysis and an
increased risk of clotting,
o Rx is usually symptomatic unless:
§ Valaciclovir can be considered for
adolescents and adults unlucky
enough to develop primary VZV
infection, as it is more severe when
contracted beyond childhood
§ Human varicella zoster immunoglobulin (VZIG) is recommended for high-risk immunosuppressed
Fungal infections
• Ringworm is caused by dermatophyte fungi that invade dead keratinous structures in skin (Stratum corneum), nails and hair. The term
‘ringworm’ is used because of the often ringed (annular) appearance of skin lesions
o A severe inflammatory pustular ringworm patch is called a kerion
• Tinea capitis (scalp ringworm), sometimes acquired from dogs and cats, causes scaling and patchy alopecia with hair loss with broken
hairs
o Examination under Wood’s light (filtered ultraviolet) may show
bright greenish/yellow fluorescence of the infected hairs with
some fungal species
• Tinea corpius are seen as well circumscribed, red patches that are clear in the
middle
• Rapid diagnosis can be made by microscopic examination of skin scrapings
for fungal hyphae but definitive identification of the fungus is by culture.
• Treatment of mild infections is with topical antifungal preparations, but
more severe infections require systemic antifungal treatment for several
weeks.
o Important that any animal source of infection also needs to be
treated
Scabies is caused by an infestation with the eight- legged mite Sarcoptes scabiei, which burrows
down the epidermis along the stratum corneum. Severe itching occurs 2–6 weeks after infestation
and is worse in warm conditions and at night.
Clinical features:
• In older children, burrows, papules and vesicles involve the skin between the fingers and toes
webspaces, axillae, penis and buttocks.
Michael Grant
• In infants and young children, the distribution often includes the palms, soles and trunk. The presence of lesions on the soles can be
helpful in making the diagnosis. The head, neck and face can be involved in babies but is uncommon.
• Diagnosis is made on clinical grounds with the history of itching and characteristic lesions. Although burrows are considered
pathognomonic (Comma shaped lession that are 2-3mm), they may be hard to identify because of secondary infection due to
scratching.
• Itching in other family members is a helpful clinical indicator.
• Confirmation can be made by microscopic examination of skin scrapings from the lesions to identify mite, eggs and mite faeces.
Complications:
• The skin becomes excoriated due to scratching and there may be a secondary eczematous or urticarial reaction masking the true
diagnosis. Secondary bacterial infection is common, giving crusted, pustular lesions. Sometimes slowly resolving nodular lesions are
visible.
Treatment:
• Whole family should be treated, whether or not they have evidence of infestation
• Permethrin cream (5%) should be applied below the neck to all areas and washed off after 8–12 h, repeat after a week
o In babies, the face and scalp should be included, avoiding the eyes.
• Benzyl benzoate emulsion (25%) applied below the neck only, in diluted form according to age, and left on for 12 h, is also effective
but smells and has an irritant action.
• Malathion lotion (0.5% aqueous) is another effective preparation applied below the neck and left on for 12 h.
Blistering has a number of causes (infection, trauma, drug S/E, inflammatory disease, auto-immune) and can include vesicles (<5mm), bullae
(>5mm) and pustules. It is always important when dealing with blisters to:
• Take swabs for culture and virology
Epidermolysis bullosa
This is a rare, inheritied group of genetic conditions with many types, characterised by blistering of the skin and mucous membranes due to
impaired connection between cells.
• Blisters occur spontaneously or follow minor trauma
• Management is directed to avoiding injury from even minor skin trauma and treating secondary infection.
• In the severe forms, the fingers and toes may become fused, and contractures of the limbs develop
• Mucous membrane involvement may result in oral ulceration and stenosis from oesophageal erosions
• Rx: decompressing blisters, emollients, dressings, ABx and geneteic councilling
•
Development
Important Presenting Symptoms and Signs in Development
You should be able to describe - aetiology, presentation, signs, diagnosis and basic management of:
Delayed motor milestones
Delayed speech and language
Impaired hearing
Impaired vision
Squint
School refusal
Truancy
The Spectrum of Clinical Conditions in Development
You should be able to describe - aetiology, presentation, natural history, signs, diagnosis and basic management of:
Developmental delay (one or more areas)
Cerebral palsy (various)
Learning difficulties
ADHD
Autism
Practical Skills
Development assessment with an understanding of the developmental milestones
6 Weeks
Gross motor – Limbs flexed. Head lag. Prone chin lifting.
Fine Motor – Hands held in fists. Follows person with moving
eyes
Speech & Language – turns to sound
Social – smiles at mother, watches face
Vision – fixes and follows through 90 degrees
6 Months
Gross motor – Good head control, Roll over, Sit when held
Fine motor – Moves object hand to hand
Speech & Language – responsive to word “no” and changes in
tone
Social – friendly to everyone, has likes and dislikes, talks to
mirrors
Michael Grant
12 Months
Gross motor – Sits unsupported (usuallly after 7
months). Lying -> Sitting. Pulls self up on furniture
Fine motor – Pincer Grip
Speech & Language – “dada” “mama”, knows the
meaning of many words
Social – Stranger anxiety
15 Months
Gross Motor – Sitting to standing alone. Walks
(unstable). Crawl upstairs
Fine Motor – Point to what they want. Tower of 2
bricks
Speech & Language – listens, enjoys songs
Social – understands many phrases
18 Months
Gross Motor – Steady gait. Run short distance
Fine Motor – Hand dominance normal (Before now
can imply pathology of contralateral) Scribbles with
crayon. Turns 2/3 pages
Speech & Development – can point to 2/3 parts of
body
2 Years
Gross Motor – Up & down stairs. Climb furniture.
Throw & kick ball
Fine Motor – Tower of 6 bricks. Vertical line. Shapes
in slots
Speech & Language – asks for food/drink. 2/3 word
sentences
3 Years
Gross Motor – Walks upstairs with alternating feet.
Stand on one foot. Tricycle
Fine Motor – Tower of 9 cubes. Draw circles.
Speech & Language – knows nursery rhymes, count
to 10, two colours
Social – can undress & dress, needs help with
buttons and which shoe
4 Years
Gross Motor – Walks down stairs using alternating
feet. Hop on 1 foot
Fine Motor – Can write name. Use scissors.
Speech & Language – gives 1st and 2nd name
Social – can attend all toilet needs
Developmental delay:
Global developmental delay implies a delay in the acquesiton of skills
in all fields (ross motor, vision and fine motor, hearing and speech, and
language and cognition, social/ emotional and behaviour) and is
usaully apparent by 2 years.
• Must investigate for cause (box to right)
• As children become older it is more appropriate to describe them
as having a learning disability, motor disorder and communication
difficulty
Abnormal motor development is a delay in the acquestion of motor

skills (e.g. head control, rolling, standing, walking, balance, asymmetry
in hand use) and can present as early as 3 months (failure to to develop
good head control). Causes include:
• Central motor deficit (e.g. cerebral palsy)
• Congenital myopathy
• Spinal cord lesions (e.g. spina bifida)
Important signs to looks for include:
• Developing hand preference before 1-2 years
Michael Grant
• Late walking (>18 motnhs) although this need to be differentiated from normal locomotion varients (bottom-shuffling, command crawling)
Cerebral palsy is an non-progressive abnormaltity of movement and posture, due to brain injury (at birth or up to the age of 2 years)
affecting 2 in 1000 live births, that is a major cause of abnormal motor development. Can often be accompanied by issues with cognition,
communication, sensation and behaviour.
• Causes:
o 80% antenatal origin due to vascular occlusion or structural maldevelopment of the brain
o 10% from hypoxic-ischaemic injurgy during delivery
o 10% postnatal such as meningiits/encephalitis/encephalopathy, head trauma (exclude NAI), symptomatic hypoglyceamia,
hyperbilirubinaemia (kernicterus)
• Clincal presentation:
o Abnormal limb and/or trunk posture
o Delayed motor milestones
o Asymmetic hand function (before 12 months)
o Abnormal gait
• Diagnosis is by clinical examination and can be classifed into 3 subtypes:
o Spastic – dammage to upper motor neurones (pyramidal or corticospinal tract) casues increased (velocity dependant, clasp
knife) lim tone, brisk tendon reflexes and extensor plantar. Basically an early stroke.
§ Hemiplegia: arm more effected than leg, face sparing, tiptoe walk (ttoe-heel gait)
§ Quadriplegia: all four limbs affected sevrealy, trunk involvment (extensor posturingn), poor head control; this more
severe form is assocatied with seizures and microcephaly
§ Diplegia: all four limbs, but the legs are effected to greater degree
o Dyskinetic – involves involuntary movements due to damage in the basal ganglia or their associated pathways (extrapyramidal).
that can be chorea, athetosis (writhing) and dystonia (simultaneous contraction of antagonist muscles of trunk and proximal
muscles giving twisting appearance)
§ Common causes; kernicterus due to Rhesus haemolysis and hypoxic-ischaemic encephalopathy
o Ataxic – tend to be genetically deteremined damaged to cerebellum; resulting in poor coordination, intention tremor and
• Managament is by multidisciplinary approach
Abnormal speech and language development involves a deficit in either receptive of expressive speech and language, or both. Causes
include:
• Hearing loss
• Anatomical issue with speech production (e.g. cleft palate, cerebral palsey)
• Enviromental deprivation/social neglect
• Normal variant (late talking can be familail)
A SLT sould be inovled for hearing assessment and to promote alternate forms of communication (e.g. Makaton)
Abnormal development of social/communication skills (autistic spectrum disorders) describes the failure to acquire normal social and
communication skills. The prevalence of autistic spectrum disorder is 3–6/1000 live births, but particularly affects boys, and usually presents at
2-4 years of age.
• Typically seen as certain co-morbities (learning/attention difficulties and seizures) plus a triad of:
o Impaired social interaction (perfers own company, avoids eye contact, disregard for others’ thoughts/feelings, failure to
grasp social cues)
o Speech and language disorder (delayed speech, limited use of gestures/facial expression, formal pedantic language,
over-literal interpretation of speech [i.e. raining cats and dogs], refers to self as you)
o Imposition of routines with ritualistic behavior (peculiar interests, poverty of imagination)
The only treatment with evidence is applied behavioural analysis (ABA), a behaviour modification approach that helps to reduce ritualistic
behaviour, develop language, social skills and play and to generalise use of all these skills. It is currently the most widely accepted treatment
approach but requires 25–30 h of individual therapy each week, so is costly and time-consuming.
Learning difficulites can be described as:

• General: typically measures by IQ borderline (70-80), moderate (50-70), severe (35-50) and profound (<35)
o Severe tends to have an organic cause (3-4 per 1000) while moderate (30 per 1000) is affected by socioeconomic class
• Specific:
o Dyspraxia - disorder of motor planning and/or execution with no significant findings on standard neurological examination
(seen with poor handwriting, messy eating with dribbling, poorly established laterallity)
o Dyslexia – reading skills disproportionate to child’s IQ (more than 2 years behind age)
o Dyscalculia – disorder of calculation
Hearing impairment can be classifed as:

• Sensorineural
o Uncommon (1 in 1000 births) and due to lesion in cochlea or
auditory nerve
o Irreverisble reduction in hearing of any severity
o Severe bilateral will require early amplicaiton by hearing aid or,
if severe enough, cochlear implants
• Conductive
o More common and typically casued by otitis media with effusion
o Even with infective casues, can last months of years especailly in
those with risk factors (Down’s, celft palate, atopy)
Michael Grant
o Impedance audiometry tests can measure the air pressure of middle ear and the complianace of tympanic membrane
o Treatment: decongestant or long course of ABx, consider grommets if resistant
Abnormalities of vision may present with:

• Loss of red eye relfex (cataract)
• White reflex - Retinoblastoma, cataract or retinopathy of prematurity (disorganized growth of retinal blood vessels which may result in
scarring and retinal detachment)
• Not smiling by 6 months
• Nystagmus
• Squint
Squint (Strabismus) is a misallignment of the visual axes.

Important to note that there can be normal, transient squints
up to 3 months and that marked epicanthic folds can give
false appearance of squint.
Squint persisting beyond 3 months must be assessed. There
are due to a failure of binocular vision development caused
by refractive errors (cataracts and retinoblastomas must be
excluded) . They are divided into:
• Concomitant due to refractive error in one or
both eyes that can be corrected by glasses. They
usually turn inwards
• Paralytic (rare) due to paralysis of motor nerves –
can be sign of space occupying lesions
Testing can involve:
• Corneal light reflex test to compare location of reflection in each eye
• Cover test in which squinting eye will move to take up fixation when the “good” eye is covered – performed at both 33cm and 6m as
some squints are only present at distance
Refractive errors:
• Hypermetropia (long sight) is the most common refractive error in young children. High degrees or asymmetric hypermetropia
should be corrected early to avoid irreversible damage to vision (amblyopia).
• Amblyopia is a potentially permanent loss of visual acuity in an eye that has not received a clear image. It affects 2–3% of
children. In most cases, it affects one eye; rarely, both are involved. Caused by any interference such as refractive errors, squint or
visual deprivation, e.g. ptosis or cataract. Treatment is by relieving deprivation and correction of any refractive error with glasses,
together with patching of the ‘good’ eye for specific periods of the day to force the ‘lazy’ eye to work and continued until the
vision in the ‘lazy’ eye no longer improves. The longer treatment is delayed, the less likely it is that normal vision will be obtained.
Early treatment is essential, as after 7 years of age improvement is unlikely.
Hyperactivity
In the true hyperkinetic disorder or attention deficit hyperactivity disorder (ADHD), the child is undoubtedly overactive in most situations
and has impaired concentration with a short attention span or distractibility. There is a powerful genetic predisposition and the underlying
problem is a dysfunction of brain neuron circuits that rely on dopamine and which control self-monitoring and self-regulation.
• Estimated as between 10 and 50 per 1000 children, boys exceeding girls three-fold.
• Manifests as disorganised, poorly-regulated and excessive activity; have difficulty with taking turns; sharing; are socially disinhibited; and
butt into other people’s conversations and play; made worse in familiar or uninteresting situations
• They also cannot regulate their activity according to the situation – they are fidgety; have excessive movements inappropriate to task
completion; lose possessions; and are generally disorganised
• Typically, they have short tempers and form poor relationships with other children, who find them exasperating.
• The children do poorly in school and lose self- esteem.
Management:
• First-line management - in with mild to moderately severe disorder is the active promotion of behavioural and educational progress
by specific advice to parents and teachers to build concentration skills, encourage quiet self-occupation, increase self-esteem and
moderate extreme behaviour. These involve having clear rules and expectations, and consistent use of rewards to encourage adherence
and where appropriate, consequences to discourage unacceptable behaviour.
• Medication, although this is usually reserved for children >6 years. Stimulants such as methylphenidate or dexamphetamine and non-
stimulants, like atomoxetine, reduce excessive motor activity and improve attention on task, focused behaviour
o Yearly trial off medication is recommended to evaluate the need for continuing treatment. Specialist supervision is mandatory.
Close liaison with the school is required throughout the years of treatment.
• The role of diet in the cause and management of hyperactivity is controversial. Current evidence indicates that the sort of diet which aims
blindly to reduce sugar, artificial additives or colourants has no effect. A few children display an idiosyncratic behavioural reaction such as
excitability or irritability to particular foods. If this seems likely, trying the child on an exclusion of that particular food may be useful. In
general, food and drinks with caffeine are not advised.
Michael Grant
Endocrine
Important Presenting Symptoms and Signs in Endocrine, metabolism and growth
Delayed/ precocious puberty
Short stature
Tall stature
Obesity
Microcephaly
Macrocephaly
The Spectrum of Clinical Conditions in Endocrine, metabolism and growth
◦ Diabetes mellitus
◦ Hypoglycaemia
◦ Hypothyroidism
◦ Hyperthyroidism
◦ Growth and puberty (normal and abnormal)
◦ Inborn errors of metabolism
◦ Short stature
◦ Tall stature
◦ Abnormalities of head size (macrocephaly/
microcephaly)
◦ Failure to thrive
Premature sexual development

The development of secondary sexual characteristics before 8
in males and 9 in females is abnormal; when accompanied
with a growth spurt it is known as precocious puberty.
Precocious puberty can be categorsied according to the level

of pituitary-derived gonadotropins (FSH and LH);
• Gonadotropin dependant True PC with premature
activation of hypothalmic-pituitary-gonadal axis
(increased FSH and, especailly, LH)
• Gonadotropin independent from excess sex
hormones
In females the cause is usually idiopathic of familial and follows the normal sequence of puberty – can be seen on USS as multicystic ovaries
with enlarging uterus.
In males it is uncommon and usually has an organic cause, particularly intracranial tumours.
• Examination of the testes is important:
o Bilateral enlargement – gonadaotropin realse from intracranial lesion
o Unilateral enlargment – gonadal
o Small testes – adrenal hyperplasia/tumour
Management:
• Treat any underlying pathology (e.g. tumour)
• Reduce rate of skeletal maturaion if neccesary, to prevent early cessation of growth (bone age
study by x-ray of left hand to look at epiphysis calcification)
• Address psychological/social difficulties
• If Rx required for GnRH dependant disease then gonadotropin-releasing hormone (GnRH) ana-
logues are the treatment of choice; for GnRH independent, nhibitors of androgen or oestrogen
production or action (e.g. medroxypro- gesterone acetate, cyproterone acetate, testolactone,
ketoconazole) may be used.
Delayed puberty
Defined as the absence of pubertal development by 14 in females and 15 in males. It is more common in
males and the most common cause is constitutional delay, which is often familial. Other common
causes include excessive dieting or training.
Affected children will been seen with:
• Short stature during childhood
• Delay in sexual maturation
• Delayed skeletal maturity on bone age study
• Eunuchoid body habitus – long legs compared to back
Michael Grant
Assessment should take the form of:
• In males; pubertal staging (testicular volume) and identify chronic disease
• In females; karyotyping to identify turner syndrome (45 X0), thyroid and sex hormone
testing
Management
• Treat any underlying pathology
• Ensure psychological adaption to puberty
• In extreme cases; accelerate growth and entry into puberty:
o Young males: Oxandrolone – helps growth but not secondary sexual
characteristics
o Older males: lose dose IM testosterone
o Females: Oestradiol
Short stature is height below the second centile (1 in 50) with most of these children will be normal with short parents, but the further below
they are the more a pathological cause should be sought.
• Issues include bullying, poor self-esteem, disadvantage at sports and inappropriate treatment (due to assumed younger age)
• Growth velocity is the most important measure and may show growth issues before they go below the second centile. This involves
taking two accurate measurements at least 6 months but preferably a year apart allow calculation of height velocity in cm/year
o Compared with the weight centile and an estimate of their genetic target (Mean of parents’ height [if male, +9cm] or [if
female, -7cm])
• Causes include:
o Familial – short parents
o IUGR and extreme prematurity – children born in these settings may remain short and growth hormone treatment may be
required
o Constitutional delay – delayed puberty that is often familial, but may also occur with excessive dieting or exercise. Seen with
eunuchoid features (legs longer than bank)
o Endocrine - Hypothyroidism, growth hormone (GH) deficiency, IGF-1 (insulin-like growth factor 1 – downstream effector of GH)
deficiency and steroid excess (iatrogenic usually, even with low doses of inhaled)
o Hypothyroidism – usually due to autoimmune thyroiditis and seen with weight gain. Congenital hypothyroid is detected early
and thus doesn’t cause small stature.
o Growth hormone deficiency - This may be an isolated defect of pituitary or secondary to panhypopituitarism. Can be treated
by synthetic GH. Pituitary function may be abnormal in:
§ Congenital mid-facial defects
§ Craniopharyngioma seen in late childhood with bitemporal hemiopia and/or papilloedema
§ Hypothalamic pathology; trauma, tumour, meningitis,
irradiation
§ Laron syndrome in which a person produces defective growth
hormone receptors resulting in growth hormone insensitivity.
This produces extreme short stature
• High growth hormone levels but low levels of the
downstream active product of IGF-1 produced at
the growth plate and in the liver
• Recombinant IGF-1 therapy can be used
o Nutritional/chronic illness - This is a relatively common cause of
abnormal growth
§ Inadequate nutrition from poor diet, or reduced appetitive
from chronic disease:
• Coeliac disease may result in short stature if
gastrointestinal symptoms are mild and thus not
detected in first 2 years of life
o Seen with gluteal wasting
o Look for Anti-TTG, EMA, Gliadin
antibodies (all IgA) but be aware of IgA
deficiency (test for IgG anti-gliadin)
o Associated with diabetes type 1
• Crohn disease
• Chronic renal failure
o Chromosomal disorders especially:
§ Turner syndrome should always be excluded in short girls
• Thought to be caused by absence of one of the SHOX (short stature homeobox) on the missing X
chromosome
§ Russell–Silver syndromes may present with short stature
§ Prader–Willi syndrome an imprintng disorder resulting in early hypotonia and feeding difficulties followed by short
stature, obesity from obsessive eating and learning difficulties caused by the absence of certain genes normally
present on the copy of chromosome 15 inherited from the father
• Treated with GH to improve strength, body composition and modestly improving final height
o Skeletal dysplasias (“Dwarfism”) of which the most common type of skeletal dysplasia is called achondroplasia. This is caused
by autosomal dominant mutations in the FGFR3 gene, which normal development FGFR3 has a negative regulatory effect on
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bone growth but, in achondroplasia, the mutated form is constitutively active. Legs are longer than back (opposite in
mucopolysaccharidoses)
Tall stature is less common but typically results, too, from tall parents.
o Obesity in childhood may “fuel” early growth but final height will be similar.
o Secondary endocrine causes are rare
o Both congenital adrenal hyperplasia and precocious puberty lead to early epiphyseal fusion so
that eventual final height is reduced
o Marfan (a disorder of loose connective tissue) and Klinefelter (XXY – an excess of SHOX dose)
syndromes
Abnormal head growth

Most head growth occurs in the first 2 years with 80% of adult size reached by the age of 5. Heads may
be familial and the mid-parental head percentile may need to be calculated.
• Head circumference may increase across centiles, especially if small for gestational age.
• The posterior fontanelle has closed by 8 weeks, and the anterior fontanelle by 12–18 months.
• If there is a rapid increase in head circumference, raised intracranial pressure should be
excluded
nd
Microcephaly is a head circumference below the 2 centile, can be due to:
• Familial
• Autosomal recessive conditions
• Congenital infection
• Insult to developing brain (e.g. perinatal hypoxia, hypoglycaemia, meningitis)
th
Macrocephaly is a head circumference above the 98 centile.
• Rapidly increasing head circumference suggests raised ICP (e.g. hydrocephalus, subdural haematoma, brain tumour)
o Investigation by intracranial ultrasound (if anterior fontanelle still open – e.g. <12-18 months) or CT and MRI
Type 1 DM is the third most common chronic disease in UK children (after asthma and cerebral palsy).
• Typical presentation: Several weeks of polyuria, lethargy, polydipsia, and weight loss ±infection, poor growth; ketosis.
• Typical age: 4–12yrs.
• Diagnostic criteria: signs of hyperglycaemia with venous blood glucose, ie ≥11.1 mmol/L (random) or ≥7mmol/L (fasting) , or raised
venous blood glucose on 2 occasions without symptoms. Oral glucose tolerance tests are rarely required in children, but they are based
on glucose levels at 0h and 2h post a 1.75g/kg glucose load
• Treatment: Should be delivered by a multidisciplinary paediatric diabetes care team—which provides 24h access to advice. Inform
children and parents that they may experience a partial remission phase (‘honeymoon period’) with the start of insulin.
o Starting insulin: Discuss with paediatric endocrinologist and use local protocols. One regimen would be to estimate total
daily requirement of insulin (0.8–1 units/kg/24h for prepubertal children; 1.5units/kg/24h if pubertal)
§ this daily dose should be 1⁄3 rapid acting (eg Novorapid®) and 2⁄3 long-acting (eg protaphane)
§ 2⁄3 of the daily dose should be given pre-breakfast, and 1⁄3 should be given pre dinner.
§ Tailor insulin regimen to your patient and their family.
o Diet: Ask a paediatric dietician. Energy needs ≈1500kcal/m2 or 1000kcal +100 to 200kcal for each year of age. Aiming for
30% of this with each major meal, and 10% as a bedtime snack suits some children.
§ Giving ~20% of calories as protein, ~50% as unrefined carbohydrate, and ≤30% as fat is a rule of thumb. If the
child is mildly to moderately symptomatic and clinically well, subcutaneous insulin and oral diet and fluids may be
begun at diagnosis, avoiding hospital admission.
• Sick day rules:
o Never stop insulin, even if not eating (stress response ups glucose)
o Test blood more often, ideally every 4 hours
o If vomiting, check urine ketones twice a day – come to hospital if +++ or more
o Maintain fluid intake
o Consider making a “sick day kit”: extra testing strips, insulin, sugary drinks
DKA results from a deficiency of insulin, often in combination with increased levels of counter-regulatory hormones (catecholamines,
glucagon, cortisol and growth hormone— eg due to sepsis). The big concern with childhood DKA, (as opposed to adult DKA), is the increased
frequency of cerebral oedema, which occurs in ~1% of childhood DKA and has a mortality of 25%. Other fatal events in DKA include
hypokalaemia and aspiration pneumonia (use NGT if semi-conscious and protect airway).
• The patient: Listlessness; confusion, vomiting; polyuria; polydipsia; weight loss; abdominal pain
• Look for: Dehydration; deep and rapid (Kussmaul) respirations; ketotic (fruity-smelling) breath; shock; drowsiness; coma.
• Diagnosis: Requires the combination of hyperglycaemia (≥11mmol/L), acidosis (venous pH <7.3) and ketones in urine and blood.
o Severity is categorized by degree of acidosis: mild—pH <7. 3; moderate—pH <7. 2; or severe—pH <7. 1
• Management: Do GCS; True coma is rare (<10%) in DKA: exclude other causes of coma; remember DKA may be precipitated secondarily
• Take the following action if shocked, consciousness, coma, or vomiting:
o Resuscitate: ABC: Oropharyngeal airway 100% O2 ± NGT. Consider intubation.
§ Give 10mL/kg IV boluses of 0.9% saline only if shocked, to a max. of 30mL/kg: over-enthusiastic fluid
resuscitation may cause cerebral oedema.
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• Consider ITU if BP drops, or <2yrs, or ward staff busy (all children with DKA initially require high level of
nursing care—usually 1:1)
o Rapidly confirm diagnosis: with history, finger-prick glucose
+ ketones; venous blood gas; urine dip for
ketones/glucose.
o Formal investigations: Weigh; FBC; U&E; glucose; Ca2+;
PO43–; blood gas; ECG monitoring (look for peaked T-waves
of hyperkalaemia), lab urine.
o Use clinical signs to assess dehydration; Now calculate the
volume of fluid to be replaced (fluid requirement): i.e.
maintenance fluid plus the dehydration deficit minus any fluid
already given as resuscitation fluid. It should be given at a
constant steady rate over the 1st 48h.
o Start IV fluids: Start with 0.9% saline + 20mmol KCl/500mL.
When blood glucose falls to 14mmol/L use 0.9% saline +
5% glucose + 20mmol KCl /500mL. After 12h, if plasma
sodium is stable, change to 0.45% saline + 5% glucose +
20mmol KCl/500mL.
o Start IV insulin only after 1h of IV fluids: Cerebral oedema
may be more likely if insulin is started early. There is no need
for an initial bolus of insulin.
§ Use a 1 unit/mL solution of fast acting insulin (eg
Actrapid®). Run at 0.1 units/kg/h
§ Ensure there is glucose in the IV fluids when
venous glucose is <14mmol/L.
§ DO NOT stop insulin at this stage, it is still required to switch off ketogenesis.
§ Once pH >7.3 and glucose is <14mmol/L consider reducing insulin to 0.05units/kg/h
o Stop IV insulin: When blood ketone levels are <1.0mmol/L, and patient is able to tolerate food, give a dose of
subcutaneous insulin; feed the patient.
§ Stop infusion 10–60mins after subcutaneous insulin injection
Avoid bicarbonate in DKA: it can increase the risk of cerebral oedema. If acidosis persists, consider dose of insulin (more glucose may be
needed in the IV fluids).
Hypoglycaemic coma:
• Get IV access. Get help. Intra-oral GlucoGel® has a role if IV access fails.
• Give glucose 5mL/kg of 10% dextrose IVI, or by rectal tube if no IV access, with glucagon 0.5–1mg IM or slowly IV (0.5mg if <25kg).
• Expect quick return to consciousness
o If not, recheck glucose; if low, give IV dexamethasone;
o If normal, ask yourself is this is a post-ictal state after a hypoglycaemic fit? Here, giving more glucose worsens cerebral
oedema.
MODY: maturity onset diabetes of the young

MODY is an autosomal dominant kind of non-ketotic diabetes, in childhood or young adults. The defect is one of pancreatic beta cell dysfunction—lead-
ing to impaired insulin secretion.590 ≥6 causal genes exist. MODY is caused by single gene defects, as opposed to type 1 & type 2 diabetes which are
have polygenic and environmental causes. Classic MODY accounts for <5% of all childhood diabetes in Caucasians.591
MODY2 (GCK subtype) is caused by mutations in the glucokinase gene on chromosome 7. Glucokinase converts glucose to glucose-6-phosphate,
which is needed to stimulate insulin secretion by the beta-cells. There is mild, asymptomatic, stable hyperglycaemia from birth. Microvascular disease is
rare. Drugs are rarely needed.
MODY3 (HNF1A subtype) is the most common type. It is caused by a defect on chromosome 12 leading to a progressive decrease in insulin
production. It features severe hyperglycaemia after puberty, which often leads to a diagnosis of type 1 DM. Despite progressive hyperglycaemia,
sensitivity to sul- fonylureas is retained for years. Diabetic retinopathy and nephropathy often occur in MODY3. Frequency of cardiovascular disease is
not increased. Owing to the pleiotropic character of transcription factors, most MODY subtypes are diseases with multi-organ involvement in addition to
diabetes.
MODY5 (HNF-1B)is more frequent than originally thought. It is associated with pancreatic atrophy, renal abnormalities, and genital tract malformations.
MODY 1 , 4 & 6 These subtypes of MODY are all rare. Molecular diagnosis matters because it has important consequences for
prognosis, family screening, and management.
Hypothyroidism
Thyroid hormone is necessary for growth and neurologic development. Dysfunction may occur in the neonate, infant or during childhood.
Congenital: Thyroid scans divide these into 3 groups: athyreosis (complete absence); thyroid dysgenesis (ectopic or underdeveloped);
dyshormonogenesis (problem with synthesis). Also remember maternal antithyroid drugs (eg propylthiouracil).
Acquired: Prematurity; Hashimoto’s thyroiditis; hypopituitarism; X-rays; Down’s syndrome.
• Signs: May be none at birth—or prolonged neonatal jaundice, widely opened posterior fontanelle, poor feeding, hypotonia, and dry
skin are common. Inactivity, sleepiness, slow feeding, little crying, and constipation may occur.
o Look for coarse dry hair, a flat nasal bridge, a protruding tongue, hypotonia, umbilical hernia, slowly relaxing reflexes, pulse,
and poor growth and mental development (cretinism).
o Other later signs: IQ, delayed puberty (occasionally precocious), short stature, delayed dentition.
• Universal neonatal screening: Cord blood or filter paper spots (at ~7 days, from heel prick) allow early diagnosis (the ‘Guthrie card).
They do prevent serious sequelae. Act on high and low TSHs (may indicate pituitary failure).
• Tests: reduced T4, increased TSH (but undetectable in secondary hypothyroidism), decreased Iodine uptake, reduced Hb.
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o Bone age < chronological age; left wrist and hand have a large number of ossification centres. Each passes through a number
of morphological stages, and using comparisons with key diagrams from ‘normal’ populations.
• Levothyroxine (LT4): Start neonates with ~15μg/kg/day; adult doses are reached by 12yrs. Adjust according to growth and clinical state.
Avoid high TSH levels. Those with athyreosis need the highest doses of T4 and the closest monitoring early on. Those with dysgenesis and
dyshormonogenesis need more attention later.
Hyperthyroidism
Typical child: Pubertal girl.
Signs/ lab features: Same as adult; palpitations, tremor, hypertonia, restlessness, weight loss, graves disease
• Fine-needle cytology of goitres may show juvenile autoimmune thyroiditis.
Carbimazole starting dose: ~250μg/kg/8h. Adjust according to response.
Propylthiouracil: 2.5mg/kg/8h (/12h in neonates) PO until euthyroid—then adjust dose; expect remission in ~67%.
• Higher doses may be needed. Typical maintenance dose: 1⁄3–2⁄3 of remission-inducing dose.
Inborn errors of metabolism

These are often diagnosed by a urine metabolic screen (eg amino acids, organic
acids, carbohydrates, mucopolysaccharides—in deciding which tests to do, get
help; interest the lab in your problem).
Typical signs: diarrhoea, lethargy, respiratory distress, metabolic acidosis (±
odd body smells), jaundice, hypoglycaemia, U&E imbalance, fits, and coma.
Features may be intermittent, and provoked by crises (eg infection;
dehydration). In addition, signs in box to right:
Newborn screening test to detect hypothyroidism and phenylketonuria

(PKU). The tests are done on a spot of blood from a heel-prick collected onto a filter paper. Rhe screening programme has been extended to
include cystic fibrosis, haemoglobinopathies and the metabolic disorder MCADD.
Emergency management of IEM involves:

• Stopping feeds
• Promote anabolism with 10% dextrose + appropriate electrolytes additives for imbalances
• Eliminate toxic metabolites:
o Drugs, e.g. Sodium benzoate (for ammonia), carnitine (for organic acids)
o Dialysis – extremes of ammonia, organic acids, MSUD, lactate
Amino acid disorders:
Phenylketonuria is due to a deficiency of the enzyme phenylalanine hydroxylase (classical PKU, alothough there is a rarer type involving the
synthesis of biopterin cofactor for this enzyme)
o Developmental delay at 6–12 months of age
o Fair haired, blue-eyed (may develop eczema
o There may be a musty odour
PKU (phenylalanine ketonuria)

• Cause: Mutation of phenylalanine hydroxylase (PAH) gene
(chromosome 1—autosomal recessive) leading to absent or reduced
activity of phenylalanine hydroxylase. Classic PKU leads to gradual
mental impairment. The defect leads to reduced CNS dopamine,
reduced protein synthesis, and demyelination. Milder forms of
hyperphenylalanaemia can occur with different mutations to the
same gene, or mutations to co-factor tetrahydrobiopetrin (BH4).
• Clinical features: Fair hair and blue eyes (lack of tyrosine), fits,
eczema, musty urine. The chief manifestations is reduced IQ (eg
dyscalculia ± poor spelling ± cognition)
• Tests: Hyperphenylalaninaemia (reference interval: 50–120μmol/L).
Treatment instigated in infants with levels >360μmol/L—to avoid
reduced IQ which may start with levels of >394μmol/L.
• Treatment: Get expert help.
• Diet: protein substitute that lacks phenylalanine but is enriched in
tyrosine. Aim to keep phenylalanine levels to <360μmol/L570 by prescribing artificial food substitutes (amino acid drinks) to give
<300mg–8g of natural protein/day (depending on age and severity of phenylalanine hydroxylase deficiency).
o Hypomyelination may be proportional to degree of phenylketonaemia, but some studies fail to show stricter diets are
associated with higher IQs.
o Despite treatment, children are more prone to depression, anxiety, phobic tendencies, isolation, and a less ‘masculine’ self-
image.
o Adherence to the diet may be poor (it’s unpalatable). May cause changes of questionable significance in levels of selenium, zinc,
iron, retinol, and polyunsaturated fatty acids.
• Prevention of manifestations: Screen blood at 1 week (using a heel-prick and filter paper impregnation—the Guthrie test).
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• Maternal phenylketonuria: Preconception counselling is vital as baby can be born with: facial dysmorphism, microcephaly, growth
retardation, IQ
Homocystinuria
This is due to cystathionine synthetase deficiency.
• Clinical features: Developmental delay, subluxation of the ocular lens (ectopia lentis), progressive learning difficulty, psychiatric
disorders and convulsions, skeletal manifestations resemble Marfan syndrome, complexion is usually fair with brittle hair,
Thromboembolic episodes may occur at any age.
• Treatment: Almost half respond to large doses of the Vitamin B6 (coenzyme pyridoxine). Those who do not respond are treated with a
low-methionine diet and the re-methylating agent betaine
Disorders of carbohydrate metabolism:

Diagnosis is with a ‘metabolic screen’ in addition to the standard investigations for
unwell infants. The ‘metabolic screen’ varies between laboratories and should be
discussed with the specialist laboratory before collecting samples. The urgency
should also be indicated. Both blood and urine samples will be needed. In
patients with acidosis, beside ketone testing and calculation of the anion gap can
be helpful. Values >25 mmol/L (normal 12–16 mmol/L) are usually secondary to an
organic acidaemia.
Galactosaemia is a rare, recessively inherited disorder results from deficiency of

the enzyme galactose-1-phosphate uridyltransferase, which is essential for
galactose metabolism.
• When lactose-containing milk feeds such as breast or infant formula are introduced, affected infants feed poorly, vomit and develop
jaundice and hepatomegaly and hepatic failure – death by liver failure or E.Coli sepsis.
• Improvement when given intravenous fluids but relapse if milk feeds are restarted is characteristic of classical galactosaemia.
• Chronic liver disease, cataracts within a few days and developmental delay are inevitable if the condition is untreated.
• Management is with a lactose- and galactose-free diet for life.
• Even if treated early, there are usually moderate learning difficulties (adult IQ 60–80)
• Treatment:
o Restriction of lactose and galactose
o Neonate: Acutely management (10% dextrose/supportive treatment) followed by soya feeds
o Older children: Beware of hidden sources of lactose/galatose e.g. milk powder additives, drugs in tablets, toothpaste, sausage
fillers
Feeding
Importance of adequate nutrition
Nutrition requirements at different ages
Benefits of Breastfeeding
Awareness of different formula's available for different medical conditions
The Spectrum of Clinical Conditions
◦ Feeding difficulties
◦ Failure to thrive/ faltering growth
◦ Malnutrition
◦ Deficiency
◦ Obesity
Breastfeeding
Health Benefits for Baby • Childhood leakaemia
Reduced: • SIDS
• GI and respiratory infections
• Necrotizing enterocolitis Health benefits for mother
• UTI Reduced:
• Urine infections • Breast cancer
• Allergic diseases (eczema, asthma and wheezing) • Ovarian cancer
• Type 1 and 2 diabetes • Hip fracture and osteoporosis
• Obesity • Cardiovascular disease
Principles of breastfeeding Positioning – CHIN:

Close Nutrient Neonate/Infant Children 2-12 years Adolescent
Head free
In line Energy
80-100 60-80 30-40
Nose to nipple kcal/kg/day
Protein
Paediatric Nutrition 1.2-1.8 1 0.8
g/kg/day
Background knowledge
Assessing nutritional status Fluid
100 for 1st 10 kg, 50 for 2nd 10kg, 20 for remainder
◦ Plot height and weight on growth charts ml/kg/day
(determine trend and centiles)  
Michael Grant
◦History and examination  
◦Bloods: haemoglobin, electrolytes (including Mg, PO, Ca), LFTs (including albumin), haematinics (B12, folate, ferritin)  
◦Normal requirements  Matching requirements  
◦ Most formulas contain 0.6-1 kcal/ml and are nutritionally complete  
◦ The volume of formula required must be calculated by working out their requirements  
◦ Daily volume required (ml) = daily requirement (kcal) / formula concentration (kcal/ml)  Age progression  
◦ Breast milk is ideal for most infants  
◦ Weaning on to solids should occur at 6 months  
o Initially baby rice, fruit and vegetables, then progress tastes and textures
o Finger food from 7 months
◦ Complimentary breast or formula milk should continue until 1 year, then full fat cow’s milk should be main drink
(semi-skimmed  from 2 years)  
◦ Supplemental vitamins A, C and D until 5 years  
◦ Older children: whole-grain cereals; 5-a-day vegetables/fruit; 2 servings of meat or alternatives per day; 1 starchy
food at each  meal time; 3-4 portions of dairy product per day  

Formulas  
Standard milk-based o Examples: aptamil, SMA first, Enfamil, cow & gate, babynet, alpro, hollie
Protein variations (for dietary protein intolerances)

Relatively high incidence of adverse reactions to food proteins in infancy
• Immaturity of immune system
• Increased gut permeability to large molecules
• IgA deficiency involved in immune defense mucosal surfaces
• CMPI most common, range of estimates
• 5-15% show symptoms of CMPI
Soy formulas
o Still whole protein but different type 
o Not first line because up to half of babies with cow’s milk protein intolerance are also intolerant to soy protein
o Examples: infasoy, wysoy
Hypoallergenic
Partially-hydrolysed 
o Available over the counter
o Examples: aptamil comfort, cow & gate comfort, SMA comfort
Extensively-hydrolysed
o 1st line for dietary protein intolerances
o Examples: nutramigen 1, pepti junior, aptamil pepti, infatrini peptisorb
Elemental (amino-acid based)
o 2nd line for dietary protein intolerances
o Very expensive 
o Examples: neocate LCP, nutramigen AA
Carbohydrate variations (for carbohydrate intolerances)

Lactose-free 
o Examples: enfamil o-lac, SMA LF
Fat variations (for fat absorption disorders)

Medium chain triglyceriedes (MCT) 
o Examples: portagen powder
Light chain triglyceriedes (LCT)
Viscosity variations (for reflux)

Thickened 
o Examples: SMA stay down, enfamil AR (anti-reflux), aptamil AR
High energy variations (for catch up growth)

High energy 
o Examples: infatrini, SMA high energy
Enteric feeds
When oral feeds cannot sustain adequate growth and the gut is functioning, formula milk, expressed breast milk or enteral feeds can be
administered via tubes...
Administration methods
• Fine bore-nasogastric (NG) tube – default  
• Nasojejunal (NJ) tube – if problems with gastric reflux or delayed gastric emptying  
• Percutaneous gastrostomy/jejunostomy tube – for longer term feeding i.e. >4-6 weeks or if mechanical swallowing obstruction  
Administration  
Michael Grant
• Boluses – more physiological but can cause ‘dumping syndrome’ (fluid shift into the gut lumen with plasma volume contraction
and acute intestinal distention) 
• Intermittent infusion – most commonly used (e.g. 10 hours on, 2 hours off)  
• Continuous infusion – used for very ill patients  
Drugs down enteric tubes
• Use solutions where possible  
• Some tablets can be crushed and some capsules may be opened (check with pharmacist)  
• Tablets which cannot be crushed: modified release tablets; enteric coated tablets  
Parenteral nutrition  
Parenteral nutrition may be required in intestinal failure (acute or chronic) and is given via central venous access  
• ‘Parenteric nutrition’ (PN) – if also feeding patient by other methods  
• ‘Total parenteric nutrition’ (TPN) – only IV feeding  
Re-feeding syndrome  
• Insulin surge and re-switching on of cellular membrane pumps in response to feeding causes electrolyte abnormalities
(especially K+, PO43-, Mg2+) which can lead to arrhythmias and death  
• Check K+, PO43-, Mg2+  
• Prevent by starting feed slowly in at risk patients  
• Management  
o Continue low level of feed o Daily bloods minimum initially o Replace all electrolytes – see common prescriptions
Causes of faltering growth
Low intake Pyloric stenosis  
Not enough food offered or taken (95% of Dysmotility  
cases)   Increased requirements  
Psychological   Cystic fibrosis  
Structural   Congenital heart disease  
Neurological   Malignancy  
Food loss  
GORD  
Malabsorption - Digestive
Carbohydrate ‘intolerance’ (lack of enzymes mean undigested disaccharides increase osmotic load causing flatulence, bloating, diarrhoea and
cramps after eating carbohydrate)
o Lactose intolerance
Congenital lactase deficiency (rare)  
Secondary to enterocyte damage after gastroenteritis (transient)  
o Maltose intolerance
o Sucrose intolerance
Pancreatic
o Cystic fibrosis 
o Chronic pancreatitis
o Cholestasis
Malabsorption - Mucosal 
• Dietary protein ‘intolerance’ (allergy to certain proteins)
o Investigations: Skin prick testing (SPT),
Radioallergosorbent test (RAST), Specific IgE
§ Cow’s milk protein allergy (presents in
first few months after being fed with
formula)
§ Soya bean protein allergy 
§ Egg protein allergy
• Coeliac disease (presents any time after weaning with
bloating, diarrhoea, failure to thrive)  
• Inflammatory bowel disease  
• Abetalipoproteinemia (autosomal recessive mutation in
microsomal triglyceride transfer protein resulting in
interference with fat  and fat soluble vitamin absorption)
 
• Intestinal venous/lymphatic obstruction (e.g. cardiac
failure, lymphangiectasia)
Failure to thrive
• is a description, not a diagnosis  
• weights of infants are only helpful if accurate and plotted
on a centile chart  
• is present if an infant’s weight falls across two centile
lines  
Michael Grant
• is likely to be present the further the weight is below the 2nd centile  
• is mostly due to inadequate food intake  
• is accompanied by abnormal symptoms or signs if there is organic disease  
• most affected infants and toddlers do not require any investigations and are managed in primary care by increasing energy intake by
dietary and behavioural modification and monitoring growth.
Gastroenterology
Important Presenting Symptoms and Signs in Gastrointestinal
Abdominal pain
Diarrhoea
Constipation
Vomiting
The Spectrum of Clinical Conditions in Gastrointestinal
◦ Gastro-oesophageal reflux
◦ Pyloric stenosis
◦ Coeliac disease
◦ Milk intolerance
◦ Infective diarrhoeas (rotavirus, giardia lamblia, shigella, salmonella etc)
◦ Constipation/Encopresis
◦ Feeding problems
◦ Faltering growth
◦ Inflammatory bowel disease
◦ Food allergy and intolerance
You should also have knowledge of
Oral rehydration therapy
Practical skills
◦ Abdominal examination
◦ Assess for dehydration
Acute abdominal pain

Exclude medical causes, in particular:
o Lower lobe pneumonia, diabetic ketoacidosis, hepatitis, pyelonephritis/UTI
o Check for strangulated inguinal hernia or torsion of the testis in boys
o On palpating the abdomen in children with acute appendicitis, guarding and rebound tenderness are often absent or
unimpressive, but pain from peritoneal inflammation may be demonstrated on coughing, walking or jumping
o To distinguish between acute appendicitis and non-specific abdominal pain may require close monitoring and repeated
evaluation in hospital.
Acute appendicitis is the commonest cause of abdominal pain requiring surgery and important to catch early due to immature omentum
allowing for early perforation
o Central, colicky abdo pain that eventually localizes to right iliac fossa (local peritoneal inflam.)
§ Made worse by movement
Michael Grant
o Flushed face with oral fetor
o McBurney’s point
• Investigations:
o No specific lab tests can consistently help, child requires regular clinical review
o USS can aid diagnosis (thickened, non-compressible appendix with increased blood flow)
§ May also reveal complications: abscess, perforation, appendix mass
o Laproscopy may be available to visualize inflamed appendix
• Management:
o Uncomplicated appendicitis – Appendectomy
o Complicated (abscess, perf’, etc.) – fluid resuss, IV ABx before appendectomy
Non-specific abdominal pain and mesenteric adenitis is abdo pain that is less severe than appendicitis and resolves 24-48hr.
• Often accompanied with URTI and cervical lymphadenopathy
• Mesenteric adenitis can only be diagnosed in those with large mesenteric nodes and normal appendix at laparoscopy
Intussusception involves the telescoping of proximal bowel into distal portion of bowel, and typically occurs at the ileocaecal valve.
• Aetiology:
o Most common cause of intestinal obstruction in infants
o Usually occurs between 3 months and 2 years
o May follow a viral infection due to enlargement of peyer’s patches that form focal point for
telescoping
§ Also consider merkel’s diverticulum or polyps in the over 2s
• Complications:
o Twisting of the mesentery leading to venous obstruction > mucosal bleeding > fluid loss >
perforation > peritonitis > gut necrosis
o Paroxysmal colicky pain and pallor
o Vomiting +/- bile
o Sausage-shaped mass (may be palpable on abdomen)
o Redcurrent jelly stool
o Hypovolemic shock
• Investigations:
o X-ray: distended small bowel with no gas in distal colon or rectum
o USS can be used to confirm diagnosis and check response to treatment
• Management:
o Fluid resus
o Rectal air insufflation (75% success – remainder require operative reduction)
Merkel diverticulum occurs in around 2% of people, is 2 inches long and is a remnant of the vitello-intestinal
duct that contains 2 types of tissue: ectopic gastric mucosa or pancreatic tissue.
o Can be asymptomatic
o Severe rectal bleeding (classically neither bright red nor true melaena)
o Presentation can include intussusception, volvulus, or diverticulitis (that mimics
appendicitis)
• Investigations:
o Technetium scan (ectopic gastric mucosa in 70% of cases)
• Management:
o Surgical resection
Malrotation is due to fetal rotation of the small bowl creating a shorter mesenteric base +/- fibrous Ladd
bands that predispose patients to volvulus. There are two types of presentation: obstruction and
obstruction with compromised blood supply.
• Clinical signs:
o Dark green, bilious vomiting
§ Always require urgent upper GI contrast study
§ Unless signs of vascular compromise (acute abdo, peritonitis) > URGENT
LAPAROTOMY
• Management:
o Laparotomy: untwist volvulus, broaden mesentery
§ Appendix removed to eliminate risk of diagnostic confusion with future volvulus
Recurrent abdominal pain

Defined as pain sufficient to interrupt normal activities that lasts for at least 3 months.
• Anxiety may play a component in altered bowel motility and this such be explored
• Urine microscopy and culture +/- USS are required to exclude urinary cause cause of abdo pain
(stones, pelvi-ureteric junction obstruction)
• Serious due to missed schooling but not dangerous
• Causes:
Michael Grant
o Abdominal migraine
§ Usually associated with headaches but abdo pain may predominate
§ Midline pain with vomiting
§ Facial pallor
§ Family Hx of migraines
o Irritable bowel syndrome

§ Altered gastrointestional motility, abnormal sensation of contents and abnormally forceful contractions
§ Made worse by psycho-social factors (stress, anxiety)
§ Symptoms:
• Abdo pain (worse before and less after passing stool)
• Explosive, loose, mucousy stools
• Bloating
o Functional dyspepsia
§ Non-specific symptoms including: early satiety, bloating and postprandial vomiting and may have delayed gastric
emptying
§ Pain that wakes child at night may imply ulcer:
• A 13C breath test following the administration of 13C-labelled urea by mouth
Diarrhoea
• Viral diarrhoea:
o Most common cause of acute gastroenteritis esp. Rotavirus
o Watery diarrhoea
• Bacterial diarrhoea:
o Shigella – dysentery (bloody/mucousy stools)
o E.Coli (HUS – 0157, shiga toxin produces Haemolytic ureamia
syndrome) due to verocytotoxin that accumulates in the kidney
causing a coagulation that partially occludes microcirculation, thus
damaging RBCs. With early supportive therapy, including dialysis,
the typical diarrhoea-associated HUS usually has a good prognosis;
seen as a triad of:
§ Acute renal failure
§ Haemolytic anaemia
§ Thrombocytopenia
• Protozoa diarrhoea:
o Giardia Lamblia mimics coeliac disease
• Other/non-infective:
o Surgical – redcurrent jelly
o Rule out appendix abscess
• Post-gastroenteritis syndrome
o Temporary lactose intolerance due to sloughing off of
lactase in small bowl superficial gastric mucosa
o Confirmed by the presence of non-absorbed sugar in the
stools giving; a positive ‘Clinitest’ result
o Return to an oral rehydration solution for 24h, followed by
a further introduction of a normal diet
o Dietary intolerance to diary for up to 2 weeks
Management of diarrhoea:
• Assess hydration
o 5% loss of body weight dehydration can be seen in table
• Give IV or oral rehydration solution (less risk of toxicities if given
oral, hypotonic solutions reccomended)
o ORS works on the basis of the Na/Glucose co-transporter
+passive water solution (Glucose 75, Sodium 75, Osmolality
245)
§ 50ml/kg
o Avoid coke/sweet juices as lack of sodium will not cause
activation of co-transporter, thus less water is absorbed and
child can still have osmotic diarrhoea
• Reintroduce feeds/milk soon (esp. if breast feeding)
• Avoid ABx
o Possible risk of making it worse, esp. in case of haemolytic
ureamia
o Can be used in in malnour-
o ished or immunocompromised children or for specific
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o bacterial or protozoal infections (e.g. Clostridium difficile-associated with pseudomembranous colitis, cholera, shigellosis,
giardiasis)
Recurrent diarrhoea
The most important sign in recurrent diarrhoea is child growth/weight gain
• Causes:
o Toddler’s Diarrhoea
§ Common “Peas and carrots diarrhoea”
§ Thriving child
§ Thought to be due to increase GI transit time
§ Increase milk (fat) and fibre, cut out juice to slow transit
time
o Cow’s milk protein intolerance
§ More common in atopy
§ May have been poor/cranky feeder
§ Skin prick/RAST may be positive
o Pancreatic insufficiency
§ CF (Steatorea plus lung signs)
§ Schwachman’s (is a rare congenital disorder
characterized by exocrine pancreatic insufficiency)
o Lactose intolerance (primary or secondary)
§ Acidic stools with abnormal sugarchromatogram
o Inflammatory bowel disease
o Coeliac disease
Vomiting
• Causes:
o Reflux (may proceed to GORD)
§ Usually diagnosed by exclusion with Hx
§ pH probe can be used
§ Rx:
• Conservative: nothing, postural measures (tilt head up after small,
frequent feeds), carobel thickener, gaviscon
• If pain is a problem: Ranitidine, Omeprazole
• Surgery: Fundoplication for those with GORD and FTT
o Feeding problems – overfeeding
o Cow’s milk protein intolerance (associated with atopy)
o Obstruction
§ Pyloric stenosis (projectile, non-bilious vomit but child still wants to feed after)
• 4-8 weeks, seen mostly in first born, males
• USS + Venous pH can be used to exclude the diagnosis
o Will develop a hypokalaemic (exchange of H and K means K goes
down on loss of H), hypochloraemic (Cl vomited out of HCl acid)
alkalosis
o Idiopathic hypertrophy of the pyloric musculature, USS shows
pyloric muscle thickness >3mm and the length >15mm
• Test feed: “Olive” mass palpable near liver prior to projectile vomiting
• Management: Correct electrolyte disturbances. Before surgery
(Ramstedt’s pyloromyotomy/ endoscopic surgery) pass a wide-bore nasogastric tube.
§ Malrotation (“Fairy liquid green”, bilious vomit)
• Requires upper GI contrast series
o Recurrent infection
o Inborn errors of metabolism – e.g. galactosaemia
(seen with hepatomegaly)
o Raised ICP
Constipation
• Aetiology:
o Common cause of referral in school years, F>M
o Can be due to the poo-pain cycle:
§ Painful, hard stool causes child to associate
pooing with pain
§ Become reluctant to poo, and withhold it
§ Impacted poo causes megacolon that
downregulates stretch receptors reducing
amounts of rectal sensation
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§ Soft stools slip around the impacted and can leak due to lack of sensitivity, causing soiling
§ Eventually, hard piece of impacted stool will pass, causing pain and reinforcing the cycle
§ Predisposing factors:
• Family Hx
• Neurological (rare): Hirschprung’s (failure to pass meconium in 48hrs), spinal abnormality (Spina bifida)
• Cow’s milk protein intolerance
• Coeliac
• Anatomical problem (Recto-vaginal connection, fissures)
• Hypothyroidism (hair/skin changes, tiredness)
o History: Stool frequency, consistency, pain, wetting, family/school problems
o Examination: perianal sensation, fissures,
perineal anatomy, back, abdomen (esp.
indentable faecal masses)
• Management :
o Get poo out (enema), keep poo out
(softener/stimulant)
o Dietary fibre
o Break poo-pain cycle
o May need psychological input
o Rarely: Antegrade colonic enema
§ Fistula made through appendix to
allow the insertion of irrigation fluid
to aid severe chronic constipation
o Drugs:
§ Osmotic, stool softener: Lactulose,
Macrogols (Polyethulene glycol 3350
– MOVICOL, most evidence)
§ Simulants: Ducosate, Senna, Sodium
picosulfate (Laxoberal)
• May cause cramping
Genetics
The Spectrum of Clinical Conditions in Genetics
You should be able to describe - aetiology, presentation, signs, diagnosis
and basic management of:
• Down's syndrome
• Turner's syndrome
• Edward's Syndrome
• Patau syndrome
• Klinefelter syndrome
• Prader willi syndrome
• Noonan syndrome
• Williams syndrome
• Fragile X syndrome
• DiGeorge syndrome
• Marfans syndrome
• Osteogenesis imperfecta
• Achondroplasia
Diagnostic modalities in genetics range from:

• Clinical: History, examination, pedigree
• Cytogenetic: Karyotyping, FISH testing
• Molecular: DNA analysis – single gene, microarray, sequencing (gene panels,
exome, whole genome)
• Metabolic: Hormones, enzymes, metabolites, etc.
• Radiology/immunology/others
Down's syndrome is caused primarily by a trisomy of chromosome 21 (this is due to the non-
lethality of 3 copies of this chromosome) that is caused by:
• Cytogenetics – non-disjunction (most common,
• related to maternal age – see graph to right), translocation (one parent may carry a
balanced translocation) or mosaicism (rare)
• However it can also be caused by an extra copy of 21 stuck on to another chromosome; typically
14, due to a balanced translocation in a parent
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o i.e. extra 21 stuck onto another chromosome with 1 “free floating” normal chromosome 21 - thus carrying a normal amount of 21
genes – but offspring at almost 50% risk of Down’s
Edward's Syndrome
Cause: Edwards Syndrome is also known as Trisomy 18. A person has a third copy of genetic material
from chromosome number 18, instead of usual two copies.
Primarily Affects: Appears to affect females three to four times more than males.
Discovered By: Dr. John Hilton Edwards
Symptoms: Low-set ears, mental deficiency, small head, small jaw, unusually shaped chest, low birth
weight, crossed legs (as a preferred position), congenital heart disease, kidney problems, cleft or hole
in iris, etc.
Key Statistics:
• Occurs in about 1:3000 live births.
• Small number of babies (<10%) live at least one year
Patau syndrome is a trisomy of 13 that usually results in in utero death but, if born they can live for a
very short duration with complications:
• Hypotelorism (Eyes too close together)
• Holopros-encephaly; forebrain fails to separate and form cerebral
hemispheres with
• Heart defects
• Renal dyplasia (e.g. polycystic kidneys)
• IUGR
• Postaxial polydactyly (addition on the ulanar side)
• Aplasia cutis congenital (missing piece of skin from scalp)
• Others: Cleft lip, decreased muscle tone, severe mental retardation, small
eyes, small head, undescended testicles, low-set ears, seizures, close-set
eyes, skeletal abnormalities, clenched hands, umbilical hernia, extra
fingers or toes, etc.
Klinefelter syndrome is a chromosomal disorder causing a total of 47

chromosoms with the addition of an X chromosome (i.e. 47, XXY). This
disorder occurs in about 1–2 per 1000 live-born males.
• Infertility – most common presentation
• Hypogonadism with small testes
• Pubertal development may appear normal (some males benefit from
testosterone therapy)
• Gynaecomastia in adolescence
• Tall stature
• Intelligence usually in the normal range, but some have educational
and psychological problems
Primarily Affects: Males. It is the most common sex chromosome disorder
in males.
Discovered By: Dr. Harry Klinefelter
Symptoms: Reduced fertility, neurophysiological impairments in terms
of execution, smaller testicles, gynecomastia (increased breast tissue),
rounded body, etc.
Key Statistics:
47XXY, the most common of the sex chromosome variations, is said to
occur in 1 out of 500 males.
Thousands of 47XXY individuals in the United States alone. Many remain
undiagnosed.
Turner's syndrome
Cause: Turner's Syndrome is caused by a condition known as Monosomy
(absence of entire chromosome) of X chromosome for females.
Primarily Affects: Females
Symptoms: Short satature, low-set ears, webbed neck, broad chest, non-working ovaries,
hypothyroidism, diabetes, vision problems, neuro/cognitive deficiency, congenital heart disease, etc.
Key Statistics:
Turner's Syndrome occurs in approximately 1 of every 2,000 female births and in as many as 10% of all
miscarriages.
Prader willi syndrome

Cause: Seven genes are deleted or unexpressed on chromosome number 15q11 if inherited from the
father (Same locus as cause of Angelmans syndrome if inherited from mother)
Primarily Affects: Equal frequency of males and females.
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Symptoms:
• In utero: reduced movement, often-occurring abnormal fetal positions.
• At birth: lethargy, feeding difficulties, hypotonia.
• In infancy: excessive sleeping, scoliosis.
• In childhood: sleep disorders, excessive weight gain, speech delay, hyperphagia (over-eating).
• In adolescence: delayed puberty, obesity, extreme flexibility. In adulthood: infertility, extreme flexibility, hypotonia, decreased pubic hair.
• Adults with Prader-Willi Syndrome also often have increased amount of central fat, narrow foreheads, almond-shaped eyes, and
delayed motor development.
Key Statistics:
Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being
1:15,000
Noonan syndrome
• Autosomal dominant congenital disorder known as the “male turner’s syndrome”
although it can effect both genders
• Mutations in the Ras/mitogen activated protein kinase (MAPK) signaling pathways are
known to be responsible for ~70% of NS cases
• The principal features include congenital heart defect (typically pulmonary valve
stenosis; also atrial septal defect and hypertrophic cardiomyopathy), short stature,
learning problems, pectus excavatum, impaired blood clotting, and a characteristic
configuration of facial features including a webbed neck and a flat nose bridge
• Predisposed to malignancies, esp. juvenile myelomonocytic leukaemia
Williams syndrome
• Deletion of 7q11, it is caused by a deletion of about 26 genes from the long arm of
chromosome 7
• Supravalvular aortic stenosis (characteristic)
• Characterized by: a distinctive, "elfin" facial appearance, along with a low nasal bridge
• An unusually cheerful demeanor and ease with strangers; developmental delay
coupled with strong language skills
• Profound visuo-spatial impairments; and cardiovascular problems, such as supravalvular aortic stenosis
and transient high blood calcium.
Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile
X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X
mental retardation protein (FMRP), which is required for normal neural development.
• It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical
characteristics such as an elongated face, large or protruding ears, and large testicles (macroorchidism),
and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
DiGeorge syndrome (also know as velocardiogfacial or 22q11 syndrome)

• Microdeletion of 22q11, i.e. less than one megabase and thus not seen on microscopy
• Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot
[Pulmonary Infundibular Stenosis, overriding aorta, VSD, right ventricular hypertropy)
• Abnormal facies
• Thymic aplasia – can lead to T cell deficiencies
• Cleft palate
• Hypocalcemia/Hypoparathyroidism
Marfans syndrome is an autosomal dominant disorder caused by mutations in the FBN1 gene on
chromosome 15. It is caused by the misfolding of fibrillin-1, a glycoprotein which forms elastic fibers in
connective tissue and contributes to cell signaling activity by binding to and sequestering transforming
growth factor beta (TGF-β) The mutated fibrillin which results in an accumulation of excess TGF-β in the
lungs, heart valves, and aorta. This in turn causes abnormal structure and function of vascular smooth
muscle and reduced integrity of the extracellular matrix, which weaken the tissues and cause the features
of Marfan syndrome.
• Thumb and risk signs
• Arm span > height
• Upper segment to lower segment ratio of <0.8 – Limbs grow more than trunk
• Arachnodactyly
• Len dislocation
• Dissecting aortic aneurysm (root)
o Monitoring diameter
Osteogenesis imperfecta is a group of disorders of collagen metabolism causing bone

fragility, with bowing and frequent fractures.
• Most cases are caused by mutations in the COL1A1 (Ch. 17) and COL1A2 (Ch. 7)
genes, both of which code for type I collagen
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• In the most common form (type I), which is autosomal dominant, there are fractures during childhood and a blue appearance to the
sclerae, wormian bones in skull sutures and some develop hearing loss.
o Treatment with bisphosphonates reduces fracture rates.
o The prognosis is variable; Fractures require splinting to minimise joint deformity.
• There is a severe, lethal form (type II) with multiple fractures already present before birth
(Fig. 26.20). Many affected infants are stillborn.
o Inheritance is variable but mostly autosomal dominant or due to new mutations.
• In other types, scleral discoloration may be minimal.
Achondroplasia is caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). In

normal development FGFR3 has a negative regulatory effect on bone growth. In
achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely
shortened bones. The effect is genetically dominant, with one mutant copy of the FGFR3 gene being
sufficient to cause achondroplasia, while two copies of the mutant gene are invariably fatal
• 80% of cases are sporadic but those affected have a 50% chance of passing on condition to
offspring
• Signs and symptoms:
o Disproportionate dwarfism
o Shortening of the proximal limbs (called rhizomelic shortening)
§ Shortened femora with associated flared/spiked metaphyses
§ Short ribs with spikes at the costochondral junctions, squared iliac bones,
flattened acetabular roofs, ‘champagne glass’ shape to the pelvic inlet and
small spiked sacrosciatic notches
o Short fingers and toes with trident hands
o Large head with prominent forehead z
o Small midface with a flattened nasal bridge
o Spinal kyphosis (convex curvature) or lordosis (concave curvature)
§ The vertebrae have an abnormal configuration, there is loss of the normal biconvex border and the vertebral bodies
have a ‘bullet shape’
o Varus (bowleg) or valgus (knock knee) deformities
o Frequently have ear infections (due to Eustachian tube blockages), sleep apnea (which can be central or obstructive), and
hydrocephalus
Haematology
Important Presenting Symptoms and Signs in Haematology
• Pallor
• Bruising
• Petechial/ purpuric rashes
• Lymphadenopathy
The Spectrum of Clinical Conditions in Haematology
◦ Anaemia including aplastic anaemia
◦ Leukaemia
◦ Haemophilia
◦ Lymphadenopathy
◦ Bleeding disorders
◦ Idiopathic thrombocytopenia
◦ Henoch-Schonlein purpura
◦ Sickle cell disease
◦ Thalassaemia
Acute leukaemia is the most common cancer – followed by lymphoma and brain cancer -
of children (accounting for 31% of cancer in those <15y.o.), with the major types:
• Acute lymphoblastic leukaemia (80%) – of which 75% common and 15% T cell
o 87% 5YS
• Acute myeloid leukaemia (15%)
o Associated with certain conditions (Downs, fanconi anaemia, Bloom syndrome) and secondary to previous chemo drugs
(cyclophosphamide, melphalan, etoposide)
o More intense treatment
o Poorer outcome (70%5YS)
Survival is now about 80%, but those under 1yo have a worse outcome (most
common age between 2 to 6 – may be linked to increased exposure to
infection at school).
• Infant ALL has worse prognosis (20-50% 5YS)
• Tends to have CNS involvement
Michael Grant
• High rate of relapse
• Mixed Lineage Leukaemia rearrangement in 80% of cases
• Distinct Pro-B phenotype seen on flowcytometry
• Genetic predisposition:
o Trisomy 21 – 1/95
§ May present with blast cells in the peripheral blood after birth, called transient abnormal myelopoiesis
§ Resolves by 8 weeks but associated with 10-20% chance of AML before 4yo
o Bloom syndrome (causes mutated DNA helicase) – 1/8
o Fanconi anaemia (genetic defect in a cluster of proteins responsible for DNA repair) – 1/12
o Siblings will be fine, unless identical twin
nd
§ 5-25% concordance, so likely a “2 hit” required in addition to a tumour suppressor mutation
o Noonan’s syndrome (RAS-MAPK mutations); Predisposed to malignancies, esp. juvenile myelomonocytic leukaemia
§ Rx: Bone marrow transplant without prior chemo
• Enviromental agents:
o Delayed infection exposure theory? (school age mixing)
o In adults, benzene paints
• Clinical features of ALL:
o Bone marrow suppression
§ RBCs - Anaemia, pallor, fatigue
§ Neutrophils – fever, sepsis
§ Platelets – bruising, petechiae
o Leukaemic blasts
§ Bone pain +/- wedge # on xray
§ Hepatosplenomegaly
§ Lymphadenopathy
o However, no blasts found in peripheral blood of 10-20%
of ALL patients
o Blast cells can be seen on peripheral blood samples with
high nuclear to cytoplasmic ratios
o Bone marrow biopsy is necessary in children with
aneamia to diagnose leukaemia.
§ They can be examined by microscopy and by
flowcytometry (to distinguish cell type; B, T,
Myeloid) Also to look for:
• Aplastic anaemia - rare disease in
which the bone marrow and the
hematopoietic stem cells that reside
there are damaged. This causes a
deficiency of all three blood cell types
(pancytopenia): red blood cells
(anemia), white blood cells (leukopenia),
and platelets (thrombocytopenia).
Aplastic refers to inability of the stem
cells to generate mature blood cells.
• Lymphoma
• Bone mets
o Cytogenetic and molecular studies of bone marrow
samples
§ Karyotype; look for chromosomal abnormalities
(e.g. trimsomy, translocations)
§ FISH; e.g. Philadelphia chromosome
• Reciprocal translocation of genetic
material between chromosome 9 and
chromosome 22, and contains a fusion
gene called BCR-ABL1 coding for a
hybrid protein: a tyrosine kinase
signalling protein that is "always on",
causing the cell to divide
uncontrollably
o High rate of recurrence
§ RT-PCR; can detect all mutations, but looks for clinically relevant e.g. TEL-AML1 (a.k.a. ETV6-RUNX1, translocation
nd
between ch 12 and 21) 2 most common abnormality found in childhood leukaemia after hyperdiploidy (>50
chromosomes – can be cured by chemo alone)
o Lumbar puncture is performed to assess CNS infiltration of blast cells
§ All children will receive CNS spread prophylaxis – intrathecal methotrexate – to prevent recurrence in CNS; may
require cranial radiotherapy
Michael Grant
• Treatment:
• Treatment response is measured using PCR to detect sub-microscopic Minimal residual disease (MRD)
o Measured at end of first month of chemo
o MRD Negative if <1 in 10^4 cells
§ If negative, <5% risk of relapse
§ If positive, 30-40% risk of relapse
Immune thrombocytopenia was previously known as idiopathic thrombocytopenia, that is

9
characterized by platelet count of <100x10 /L (Usually <20 – i.e. severe – at presentation)
without another known cause in an otherwise well child. Between the 2-10 years occurs in 4
in 100,000.
• Theories:
o Increased destruction by spleen
o Reduced production by megakaryocytes in the bone marrow
o Combination of impaired production and T-cell mediated effects
• It is usually caused by destruction of circulating platelets by anti-platelet IgG
autoantibodies; with compensatory increase in megakaryocytes in bone marrow
• Usually preceded by a viral infection and may be associated with live vaccines such
as the MMR.
• Is classified with duration:
o Newly diagnosed
o Persistent (3-12 months) – 66% of cases will resolve spontaneous within 6
months
o Chronic (>12 months)
• Hemorrhage risks:
Few by very large platelets surrounded by normal WBCs and RBCs
o Life threatening bleeds are rare (can be seen in children with severe epistasis
or GI bleeds)
o Intracranial haemorrhage in 0.1% - (mortality is 50%) - do CT if there is headache or CNS signs
• Presentation: Are otherwise well, acute bruising, abrupt onset of purpura and/or petechiae. Usually a history of recent URTI or
gastroenteritis.
o May follow CMV, EBV, parvovirus, varicella-zoster, or live virus vaccine (eg MMR/rubella).
o If there is significant mucosal bleeding, or lymphadenopathy, hepatosplenomegaly, or pancytopenia, another diagnosis is
likely; e.g. leukaemia, meningococcal sepsis (although not usually well), HIV, Evans syndrome (ITP + autoimmune haemolytic
anaemia)
o Bleeding is less than a comparable thrombocytopenia due to marrow failure as all platelets in ITP are fresh and functional
§ Ask about amounts and locations of bleeding e.g. heavy epistaxis
o Ask about ibuprofen and aspirin due to increased bleeding risk
• Investigations:
• Isolated thrombocytopenia (<20≈109 in 80%); do a blood
film to ensure no other abnormalities.
• FBC
• Coag screen
• Bone Marrow biopsy is unnecessary, unless:
o Unusual signs are present, eg abnormal cells on a
film, lymphadenopathy.
o Platelet count is not rising after ~2 weeks.
o Treatment is contemplated with steroids or
immunoglobulin — may mask ALL
Michael Grant
o Bone marrow tends to show increased numbers of
megakaryocytes
• Intracranial haemorrhage occurs in <1%
• Treatment:
o Conservative: Watch and wait as Gradual resolution
over ~3 months for 80% with or without therapy.
o 20% become chronic (>6 months); the chronic form is
compatible with normal longevity, and normal
activities, provided contact sports are avoided
o Admit if:
§ Unusual features, eg excessive bleeding;
There are rowdy siblings who might
engage in physical badinage.
o Medical:
§ Prednisalone 2mg/kg for 7 days then
wean over 7 days (75% response)
• S/E: Short term; mood and
appetite changes, Long term;
suppress immune system (chicken
pox), growth failure, osteoporosis,
diabetes
§ If serious bleed or very high bleeding risk
with need to correct quickly,
immunoglobulin 1g/kg (80% response)
• Pool blood product
• Low risk of viral transmission
• Febrile reactions/headache (20%)
§ Life threatening bleeding requires platelet transfusion
o Rituximab (Anti-CD20 – targets b cells that produce the anti-platelet antibody – induce remission in 30%, S/E: temp, pruritius)
9
and IV anti-D (Single does of 50µ/kg can increase platelet count to above 20x10 /L) reduce the need for splenectomy
o Eltrombopag is a thrombopoetin receptor agonist, but is not test in childhood ITP
o Surgical: Splenectomy is considered for chronic ITP and failure of treatment as a last resort
§ S/E: surgical complications, overwhelming sepsis, increased risk of MI/Stroke, pulmonary hypertension
o Refer for clinical trial
Red cell disorders:
Anaemia in pediatrics (3 months to puberty) is defined as <110g/L and can be classified based on RBC appearance: normocytic, microcytic
(iron deficiency) and macrocytic (B12 deficiency).
• Iron deficiency anaemia
o Most common cause worldwide
o Seen with decreased MCV, MCH and MCHC; i.e. microcytic, hypochromic on blood film
o Iron studies: low Fe, low ferritin and increased total iron binding capacity (High TIBC distinguishes this picture from anaemia
of chronic disease which has a reduced TIBC).
o Clinical features:
§ Glossitis
§ Angular stomatitis
§ Koilonychia
§ Pica (appetite for substances that are largely
non-nutritive, such as ice, paper, clay, drywall or
paint, metal, chalk, soil, glass, or sand)
§ Irritability
§ Reduced cognitive function/delayed
development
§ Reflex anoxic seizures (result of either a
sudden reduction in the blood flow to the brain,
a drop in the oxygen content of the blood
supplying the brain, or a combination of the
two)
o Usually due to diet (i.e. milk drinkers – don’t eat anyhitng
else, tea drinkers as tannin inhibits iron absorption) but
important to rule out other causes (e.g. coeliac)
o Treatment: Oral iron 3-6mg/kg/d for 3 months
§ Looking for response of >10g/L per month
• Haemolytic anaemias:
o Hereditary:
§ Defect of RBC membrane such as hereditary
spherocytosis
Michael Grant
• One of the most common haemolytic anaemias, mutations result in spherical RBCs meaning they cannot pass
though microvasculature of the spleen; seen as:
§ Splenomegaly
§ Jaundice +/- gallstones (due to increased bilirubin excretion)
§ Low Hb with high reticulocyte
§ Aplastic crisis if infected by parvovirus B19
o Diagnosis by flowcytometry
o Rx: Folic acid supplements
§ Severe cases (esp. with gallstones) can have splenectomy after 6 years of age (risk of
encapsulated organism sepsis e.g. haemophilus, pneumococcus, meningococcus)
§ Defect of RBC metabolism such as
G6PD deficiency - G6PD is the
rate-limiting enzyme in the pentose
phosphate pathway and is essential
for preventing oxi- dative damage
to red cells. Red cells lacking G6PD
are susceptible to oxidant-induced
haemolysis:
• X-linked condition that
can be completely
asymptomatic until
exposure to oxidizing
agents (e.g. anti-
malarials, some ABx
(nitrofurantoin,
ciprofloxacin), moth balls,
fava/broad beans,
Chinese medicines)
o Acquired:
§ Immune mediated (coombs
positive: autoimmunity to RBCs
causes them to be coated in IgG
causing complement activation. In
the test these are washed -
removing the patient's own plasma
- and then incubated with anti-
human globulin (also known as
"Coombs reagent"). If this produces agglutination of RBCs, the direct Coombs test is positive)
• Warm auto-immune harmoylytic anaemia (IgG mediated) – antibodies present at 37 degrees
o Associated with lupus and lymphoma
o Seen with anaemia, splenomegaly
o Rx: Corticosteroids +/- IVIG
• Cold auto-immune haemolytic anaemia (c3d -
mediated) – antibodies present at 3 degrees
§ Idiopathic:
• Infection: Mycoplasma, EBV
• Lymphoma
• Paroxysmal cold haemoglobinuria (haemolysis and
dark urine after cold exposure)
• Paroxysmal nocturnal haemglobinuria (dark urine on
early morning voiding)
§ Alloimmune:
• ABO incompatibility
• Rhesus disease of the newborn
Genetic disorders of haemoglobin affect the structure of the compound

haemoglobin molecule. Each consisis of 4 globulin chains each with a haem
group. Variations of this exist, but typically have 2 alpha (4 gene copies) and 2
beta chains (2 gene copies). Types include:
• HbA
o 2 alpha, 2 beta
o Dominant after 3-6 months
o Accounts for 96-98% of total Hb
• HbF
o 2 alpha, 2 gamma
o 0.5-0.8% after 3-6 months
o Dominant in fetal life with higher affinity for oxygen
• HbA2
o 2 alpha, 2 delta
Michael Grant
o 1.5-3.2%
Alpha thalassaemia:
• Gene deletion or point mutation in the alpha chain genes (4 copies in total) can lead to a loss of function
o Loss of all 4 – Hydrops fetalis with in utero death
o Loss of 3 – HbH disease (haemoglobin made up for 4 beta chains
§ Microcytic hypochromic anaemia
§ Splenomegaly
o Los of 1 or 2 gene causes alpha thalassaemia trait
§ No anaemia and normal electrophoresis
§ May have decreased MCV and MCH
§ Diagnosis by DNA analysis
Beta thalassaemia is an autosomal recessive, point mutation condition that is much more clinically
significant that alpha type. It can cause a complete lack of (ß0), or great reduction in (ß+),
production of the haemoglobin beta chain.
• Clinical signs:
o Severe anaemia (after 3-6 months when HbF production decreases)
o Hepatosplenomegaly (excess destruction)
o Marrow hyperplasia and bony expansion (frontal bone bossing, “hair on end”
skull, pathological fractures)
• Investigations: Haemoglobin electrophoresis: Absent HbA, lots of HbF, slightly increased
HbA2
• Management:
o Blood transfusions (risk of iron overload)
o Folic acid
o Splenectomy
o Allogenic bone marrow transplant (can be curative but many complications)
• Milder forms:
o ß thalassaemia trait (or minor)
§ Symptomless/mild anaemia
§ HbA2 >3.5%
o ß thalassaemia intermedia
§ Moderate severity that is varied
Sickle cell disease

HbS forms as a result of a point mutation in codon 6 of the β-globin gene,
which causes a change in the amino acid encoded from glutamine to valine.
• When exposed to low 02, it will form crystals causing a conversion of the
RBC to a sickle shaped that will become lodged in the microvasculature
• Offers some protection against malaria
o Homozygous disease:
o Splenomegaly
o Gallstones
§ Severe anaemia with crises:
• Vaso-occlusive crisis – infarction of bone,
lung, CNS and foot
o Background of infection,
acidosis, dehydration and
deoxygenation
o Can cause “autosplenectomy”
in which multiple infarctions
cause death of spleen
• Aplastic – parvovirus, folate deficiency
• Haemolytic
• Management:
o Prophylaxis: avoiding dehydration, anoxia and cold
§ Folic acid – prevents aplastic crisis
§ Vaccination and penicillin V – due to reduced
splenic function and risk of sepsis
o Crisis: blood/plasma exchange, hydroxyurea (increases
HbF)
o Stem cell transplant is curative but very risky
• Sickle cell trait is a benign condition that does not cause symptoms but
it is important to detect these heterozygous individuals in case of;
o Pregnancy
o Anaesthesia
o Increased altitude
Michael Grant
Henoch-Schonlein purpura is an acute immune complex-mediated vasculitis. Most

patients have an antecedent upper respiratory tract infection.
• Cause is unknown. It is postulated that genetic predisposition and antigen
exposure increase circulating IgA levels and disrupt IgG synthesis.
o The IgA and IgG interact to produce complexes that activate
complement and are deposited in affected organs, precipitating an
inflammatory response with vasculitis.
o Purpura (purple spots/nodules not disappearing on palpation)
o Arthritis/arthralgias (74%) —often knees/ankles
o Abdominal pain (51%) are the classic triad
o Other signs: Renal involvement (54%; severe nephropathy in 7%, acute
renal insuciency in 2%), scrotal oedema (13%), and intussusception
(0.6%).
o Lesions confined to buttocks, extensor surfaces of legs and arms
o Glomerulonephritis leading to haematuria
• Investigations:
o ESR
o Serology: increased IgA
o Proteinuria (42%)
o Increased antistreptolyin O titres
o U&E
o BP
• Management:
o Steroids may help resolve abdo pain, but role in prevention of chronic kidney
disease is less clear.
o Most recover in 2 months.
o Recurrences, verified in 35%, correlate with ESR.
• Complications (worse in adults):
o massive GI bleeds, ileus, haemoptysis (rare), and acute renal failure (rare). One
option in HSP nephritis (not usually needed) is high-dose steroids +
cyclophosphamide; this decreases proteinuria (a risk factor for renal insu ciency in
HSP).654 Chronic renal failure occurs in 5%.
Bleeding disorders:
Haemophilia A is a factor VIII deficiency that is an X-linked recessive

condition (thus only seen in males) due to a mutation at Xq2.6
• Joint and soft tissue bleeds
o Recurrent haemarthrosis and muscle haematomas lead to
joint deformity
• Excessive bruising
• Prolonged APTT (Activated partial thromboplastin time
measures speed of clotting in intrinsic pathway)
• Normal PT (Prothrombin time is measure of extrinsic pathway)
• Factor VIII levels used to categorize:
o Severe <1% of normal VIII level
o Moderate 1-5%
o 5-20% mild
• Management:
o Comprehensive care haemophilia centre with MDT –
physio, psychological support
o Bleeding episodes treated with recombinant factor VIII
§ Can be used prophylactically if severe, 3 times per
week
§ Risk of developing antibody to recombinant VIII; treat
with recombinant VIIa
Haemophilia B has the same signs and symptoms as haemophilia A –

and is also X-linked – but is a deficiency of factor IX and is thus treated instead with recombinant factor IX.
Von Willebrands disease is a deficiency of Von Willebrand factor which is involved with platelet adhesion and is a carrier of factor VIII
• Autosomal dominant inheritance with variable expression:
o Type 1: Reduced levels of VWF
o Type 2: Abnormal VWF
o Type 3: complete lack of VWF
• Clinical signs:
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o Mucous membrane bleeds
o Excessive wound bleeding
• Labs:
o Increased bleeding time and APTT
o Low/normal VIII
o Low VWF
• Management:
o Treat bleeding with pressure
o Transexamic acid
o Desmopressin
o Intermediate purity factor VIII concentrate (human
derived factor VIII and VWF)
Infectious disease
Infectious disease
• You should be able to describe the presentation, natural history, diagnosis and basic management of childhood infectious
diseases.
Immunisation
• You should be able to state when children are due to be immunised and what immunisations that they should receive as per as the
UK Childhood immunisation schedule ( July 2014).
• You should be aware of contra-indications to immunisations.
Scarlet fever can occur as a result of a group A Streptococcus (group A strep) infection.
The signs and symptoms include a sore throat, fever, headaches, swollen lymph nodes,
and a characteristic rash. The rash is red and feels like sandpaper
• If a rash develops on the chest, axillae or behind the ears, which is accentuated in
skin folds,
o Typically starts as strep throat (fever, cough, conjunctivitis, coryzal)
o 12–48h after initial infection:
§ Rash with sandpaper texture
§ ±Pastia lines (red lines in groin and axilla)
§ Circumoral pallor (perioral area sparedfrom redness)
§ ‘Strawberry tongue’) you are probably observing scarlet fever
o Start penicillin as treatment.
o If after a week the child presents with odd movements, dizziness, walking
difficulty or altered consciousness, you may be able to diagnose Sydenham’s chorea (characterized by rapid, uncoordinated
jerking movements primarily affecting the face, hands and feet) or even a post-infectious demyelinating disorder
Meningitis typically presents with fever, vomiting and irritability. Classic signs
of neck stiffness, photophobial and bulging fontanelle are not overly common.
• Seizures may be presenting issue in 20-30%
o Beware of this when diagnosing febrile convulsions in very
young
• Can cause associated sepsis
• Pathogens:
o Most often viral (esp. enterovirus)
o Bacterial are much more severe and require public health
contact:
§ > 1 month: Neiserria meningitides (B and C), Stept. Pneumoniae, Haemiphilus influenza B
§ < 3 months: Group B strep (Streptococcus agalactiae), E. Coli
o Rare: Tuberculosis, fungi, parasites
• Investigations:
o Blood culture
o ESR/CRP
o FBC
o Lumbar puncture: culture, microscopy and molecular
testing
• Treatment:
o ABx: 2g IV Ceftriaxone
o Steroids have use in HiB meningitis and half the risk of
hearing loss
§ Should be used empirically in those >3 months due to probable benefit
Respiratory infection is typically caused by viral infection:

• Mild, self-limiting
Michael Grant
• Pathogens: RSV (esp. bronchiolitis), Rhinovirus, adenovirus, parainfluenxa, influenxa, coronavirus
• Symptoms variable
• Vulnerable populations should be considered for admission: immunosuppressed, etc.
• Respiratory infections Includes otitis media:
o Infants and young children are prone to
acute otitis media because their
Eustachian tubes are short, horizontal
and function poorly.
o There is pain in the ear, ear pulling,
fever and persistent crying. Every child
with a fever must have their tympanic
membranes examined, seen to be
bright red and bulging with loss of the
normal light reflection
o Occasionally, there is acute perforation of the eardrum with pus visible in the external canal
o Pathogens include viruses, especially RSV and rhinovirus, and bacteria including pneumococcus, non-typeable H. influenzae
and Moraxella catarrhalis.
o Serious complications are mastoiditis and meningitis, although rare in modern medicine
o Can only be diagnosed by examining the tympanic membrane
o Antibiotics (usually amoxicillin) marginally shorten the duration of pain but do not reduce hearing loss
o If recurrent, may result in otitis media with effusion, which may cause speech and learning difficulties from hearing loss;
consider grommet
• Tonsillitis:
o Centor criteria:
§ A history of fever
§ Tonsillar exudates
§ Tender anterior cervical adenopathy
§ Absence of cough
o Consider throat swabs
o Rx: Penicillin V, soluble painkillers
Pertussis is a highly contagious respiratory infection caused

by Bordetella pertussis.
• After a 10-14 days of coryza (catarrhal phase), the child
develops a characteristic paroxysmal or spasmodic
cough followed by a characteristic inspiratory whoop
(paroxysmal phase). The paroxysmal phase lasts 3–6
weeks. The symptoms gradually decrease (convalescent
phase) but may persist for many months.
o Worse at night, may culminate in vomiting
and the child may go red or blue in the face
with mucus flows from the nose/mouth
o The whoop may be absent in infants, but
apnoea is a feature at this age – should be
isolated from pre-vaccination children
o Epistaxis, petechial rash around head and
neck, subconjunctival haemorrhages, retinal
bleeds and even CNS bleeds can occur after
extremely vigorous coughing.
• Complications of pertussis, such as pneumonia,
convulsions and bronchiectasis, are uncommon, but there
is still a significant mortality, particularly in infants.
• The organism can be identified early in the disease from
culture of a per-nasal swab, although PCR is more
sensitive.
• Characteristically, there is a marked lymphocytosis (>15 × 109/L) on a blood count and film.
• Management:
o Typically, supportive unless severe infection in unvaccinated or otherwise vulnerable
o Although erythromycin eradicates the organism, it decreases symptoms only if started during the catarrhal phase.
§ Siblings, parents and school contacts may develop a similar cough, and close contacts should receive
clarithromycin prophylaxis,
• Complications: the “100 day cough”
Michael Grant
MenACWY Vaccine
This vaccine gives protection against four types of meningococcal disease
caused by groups A, C, W and Y (MenA, MenC, MenW and MenY).
Meningococcal disease is a major cause of meningitis and septicaemia.
The MenACWY vaccine is given to teenagers and new university students in
the UK as part of the routine NHS schedule. It replaces the dose of MenC
vaccine which has been given to teenagers and also to student freshers for
the past few years.
Joints and bones

• Limp
• Joint swelling
• Joint pain
The Spectrum of Clinical Conditions in Joints and Bones
◦ Juvenile chronic arthritis
◦ Accidents and commoner injuries and injury prevention strategies
◦ Limp and 'funny walks'
◦ Septic arthritis
◦ Osteomyelitis
◦ Talipes
◦ Scoliosis
◦ Developmental dysplasia of the hip
◦ Slipped upper femoral epiphysis
◦ Perthes disease
Limping child
In any MSK pathology of a child, it is important to check the joint above
and below the joint that is sore. In a limping child, major causes can
include:
Transient synovitis “irritable hip” is the most common cause of acute

hip pain in children – usually following a viral infection. However, it is
important to distinguish this from septic arthritis (if suspected;
aspiration and blood cultures).
o Relief of pain on rest, otherwise well
o Pain may be referred to knee
o Decreased RoM, especially internal rotation
• Treatment:
o Bed rest (consider skin traction)
• Complications:
o Small number proceed to Perthes disease
Michael Grant
Perthes disease is an avascular necrosis of the upper femoral epiphysis caused by an interruption of blood
supply, followed be revascularisation and reosifications over 18-36 months; that primarily effects boys from
the age of 5 to 10 years.
o Seen with the onset of limp and/or hip +/- knee pain
o Decrease in Int. Rotation, Abduction and Flexion
• Investigation: X-ray: BOTH AP and Lauenstein (frog leg)
o Repeat may be required if symptoms remain
• Treatment:
o If <50% femoral head involved then bed rest and traction will be enough
o More severe, requires hip abduction in plaster or perform osteotomy
• Complications:
o Younger onset has better outcomes
o Risk of degenerative arthritis in adult life
Slipped upper femoral epiphysis is the displacement of the femoral head

postero-inferiorly and can lead to avascular necrosis without prompt treatment.
• Most common at 10-15, esp. in obese boys
• Can be bilateral in 20%
o Limp or hip pain, that may be referred to knee
o Restricted abduction, internal rotation of hip
• Investigations:
o Diagnosis is confirmed on X-ray, and a frog lateral view should
also be requested
• Managament:
o Pin fixation in situ
Reactive arthritis most common form of arthritis in childhood. Usually follows a GI

infection (salmonella, shigella, campylobacter) or STI in adolescents (Chlamydia,
gonococcus).
• Clinical signs:
o Low grade fever
o Normal x-rays
• Treatment: None or NSAIDs until recovered
Septic arthritis is an infection of the joint space that can lead to bone destruction.
• Usually arise from blood born spread of infection from elsewhere
• Can be from local osteomyelitis (if joint capsule inserts below the epiphyseal
plate – i.e. the hip), puncture wound or infected skin lesion (esp.
chickenpox)
• The most common organism is Staphylococcus aureus, and usually only one
joint is affected. H. influenzae was an important cause in young children
prior to HiB immunisation and often affected multiple sites.
o Acutely unwell, febrile child
o Red, tender joint +/- effusion held in pseudoparalysis
o Limp/pain refered to knee
• Investigations:
o Raised WBC and ESR/CRP
o Blood culture
o X-rays: usually normal with slightly increased joint space of soft tissue swelling
o MRI can detect local osteomyelitis
o Aspiration + culture
• Management:
o IV ABx
o Consider washing out joint or drainage if resolution is prolonged
• Complications:
o Late treatment can lead to bone destruction and increased risk of
deformity and later degenerative arthritis
Juvenile idiopathic arthritis (JIA) is the commonest chronic inflammatory joint

disease in children and adolescents in the UK, but the mechanism remains
unknown. It is defined as persistent joint swelling (of >6 weeks duration)
presenting before 16 years of age without other cause. It is distinct from
rheumatoid arthritis in adults, and has 7 subtypes – based on the number of joints
effected in the first 6 months.
o Gelling (stiffness after rest)
Michael Grant
o Morning joint stiffness and pain
o Intermittent limp
o Joint welling +/- thickening of
synovium
o Bone expansion causing leg
lengthening of valgus deformity
• Complications:
o Chronic anterior uveitis – can
be asymptomatic but can cause
severe visual impairment, so
regular screening by
ophthalmology needed
o Flexion contractures of joint –
due to joints held in flexion for
comfort (reducing tension on
joint)
o Growth failure – anorexia,
chronic disease, steroid
treatment
o Amyloidosis – rare now but can
present with proteinuria and
subsequent renal failure; high mortality
• Management:
o NSAIDs – pain relief
o Joint injections
o Methotrexate – started early to reduce joint damage and given as a weekly dose with regular blood monitioring (LFT, bone
marrow suppression)
o Systemic corticosteroids – avoided due to growth suppression and osteoporosis risk but can be life-saving in severe
o Biologics (e.g. infliximab)
Osteomyelitis is an infection of the metaphysis of long bones. The most

common sites are the distal femur and proximal tibia, but any bone may be
affected. It is usually due to haematogenous spread of the pathogen, but
may arise by direct spread from an infected wound.
• The skin is swollen directly over the affected site. Where the joint
capsule is inserted distal to the epiphyseal plate, as in the hip,
osteomyelitis may spread to cause septic arthritis.
• Most infections are caused by Staphylococcus aureus, but other
pathogens include Streptococcus and Haemophilus influenzae if not
immunised.
o In sickle cell anaemia, there is an increased risk of
staphylococcal and salmonella osteomyelitis
o Painful, immobile limb (pseudoparesis)
o Acute febrile illness
o Swelling and finger-point tenderness directly over infected
bone site
o Sterile, “sympathetic” effusion in a nearby joint due to
inflammatory processes
• Investigations:
o X-ray will tend to be normal until 7-10 days when there can be
a subperiosteal bone formation and localized bone
translucency
o MRI allows identification and confirmation of infection
(subperiosteal pus)
• Treatment:
o IV ABx to prevent bone necrosis until recovery and normal ESR/CRP
§ Oral ABx after this period for several weeks
§ Prevents deformity, chronic infection from discharging sinus and amyloidosis
o Aspiration/Surgical drainage may be required in poor response or immunocompromised
Talipes equinovarus (clubfoot)

• Positional talipes from intrauterine compression is common: The foot is of normal size, the
deformity is mild and can be corrected to the neutral position with passive manipulation. Often the
baby’s intrauterine posture can be recreated. If the positional deformity is marked, parents can be
shown passive exercises by the physiotherapist.
• Talipes equinovarus is a complex abnormality; The entire foot is inverted and supinated, the
forefoot adducted and the heel is rotated inwards and in plantar flexion. The affected foot is
shorter and the calf muscles thinner than normal.
Michael Grant
o The position of the foot is fixed, cannot be corrected completely and is often bilateral
o The birth prevalence is 1 per 1000 live births, affects predominantly males and can be familial
but is usually idiopathic.
o May be secondary to oligohydramnios during pregnancy, a feature of a malformation
syndrome or of a neuromuscular disorder such as spina bifida.
o There is an association with developmental dysplasia of the hip (DDH).
o Treatment: is started promptly with plaster casting and bracing (‘Ponsetti method’)
o Important to distinguish from Vertical Talus; rare congenital vertical talus, where the foot is
stiff and rocker-bottom in shape (associated with Edward’s syndrome.
Developmental dysplasia of the hip (DDH) is a spectrum of

disorders ranging from dysplasia to subluxation through to frank
dislocation of the hip.
• Checking if the hip can be dislocated posteriorly out of the
acetabulum (Barlow manoeuvre) or can be relocated back
into the acetabulum on abduction (Ortolani manoeuvre).
These tests are repeated at routine surveillance at 8 weeks of
age
o Seen as limp or abnormal gait
o Asymmetry of skinfolds around the hip
o Limited abduction of the hip or shortening of the
affected leg
• Management:
o Specialist orthopaedic opinion should be obtained
o An ultrasound examination to determine whether there is subluxation or dislocation
o Placed in a splint or harness to keep the hip flexed and abducted for several months.
§ Progress is monitored by ultrasound or X-ray
§ Precise splinting needed as necrosis of the femoral head is a potential
complication.
Scoliosis is a lateral curvature in the frontal plane of the spine.

• In structural scoliosis, there is rotation of the vertebral bodies which causes a prominence in the
back from rib asymmetry
o In most cases, the changes are mild, pain-free and primarily a cosmetic problem
o In severe cases, spinal curvature can lead to cardiorespiratory failure from chest distortion
• Causes of scoliosis are:
o Idiopathic – most common
o Congenital (e.g. VACTERL association)
§ Refers to the non-random co-occurrence of birth defects Vertebral anomalies,
Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal
atresia, Renal & Radial anomalies and Limb defects
§ No specific genetic or chromosome problem has been identified with VACTERL
association but increased risk in Trisomy 18 and babies of diabetic mothers.
o Secondary to neuromuscular disorder (Cerebral palsy, muscular dystrophy) or CT disorder (marfan’s)
• Examination should start with inspection of the child’s back while standing up straight. In mild scoliosis, there may be irregular skin
creases and difference in shoulder height – further assessed by then bending forward (if disappeared, then issue is postural)
• Management:
o Mild resolves spontaneously
o Severe cases need specialist spinal centres where the place of non-medical treatment such as bracing will be considered
o Surgery only consider if there is cardiorespiratory failure
Salter–Harris fracture is a
fracture that involves the
epiphyseal plate or growth
plate of a bone. It is a
common injury found in
children, occurring in 15% of
childhood long bone fractures.
Michael Grant
Neonatology
You should be able to describe - aetiology, presentation, natural history, signs, diagnosis and basic
management of:
• Low birth weight
• IUGR
• Problems with preterm birth
• Respiratory disorders esp. RDS
• Bronchopulmonary dysplasia
• Hypogylcaemia
• Neonatal infections
• Neonatal jaundice
• Neonatal asphyxia
Practical skills
◦ Newborn baby check including examination of hips
◦ Neonatal resuscitation
Low birth weight (LBW): Birth weight of <2500g regardless of gestational age. Thus a LBW baby may not be small
for gestational age just because they are born preterm.
• 6% of UK infants are <2500g at birth, and 50% of these are preterm
• 10% of pregnancies end in spontaneous preterm delivery, and 70% of all perinatal deaths occur in preterm infants.
Very low birth weight (VLBW): Birth weight of <1500g regardless of age.
Extremely low birth weight (ELBW): Birth weight <1000g regardless of age.
Small for gestational age (SGA): Typically SGA refers to a birth weight below the 10th percentile (SGAW).
• 90% of SGA catch up growth in the first 2 yrs, however as adults they are on average 1 standard deviation shorter
than the mean adult height
• There may be an association between SGA and adult risk of coronary heart disease and obesity
• Chief causes:
o Poverty/poor social support may account for 30% of variance in birthweights
o Constitutional/familial factors are also important
o Other causes: Malformation; twins; placental insuciency (maternal heart disease, BP, smoking,
diabetes, sickle-cell disease, pre-eclampsia)
Causes of prematurity are mostly unknown; smoking tobacco, poverty, and malnutrition play a part.
• Others: past history of prematurity; genitourinary infection/chorioamnionitis; pre-eclampsia; polyhydramnios;
closely separated pregnancies; twins; uterine malformation; placenta praevia; abruption; premature rupture of
the membranes.
Estimating the gestational age Use the

Dubowitz score
Management If 32 weeks or less, transfer in

utero to a special centre, if possible.
• Once born, ensure airway/breathing is
optimal; protect from cold.
• Take to NICU/SCBU.
• Plan supplemental breast milk or low-
birth-weight formula if <2kg.
• Measure blood glucose before each 3-
hourly feed.
• Tube feed if oral feeds are not tolerated.
• If oral feeding is contraindicated (eg
respiratory distress) IV feeding is needed
Survival if very premature 47% survive at 24

weeks and 67% at 25weeks with mortality is
associated with intracranial abnormalities
seen ultrasonically.
Disability As a percentage of live births: if 23

weeks’ gestation: 5% had no or minor
subsequent disability (24 weeks ≈ 12%; 25
weeks ≈ 23%). Morbidity relates to cerebral palsy, squint, and retinopathy
• Disability may be subtle but specific: one pattern is decreased numeracy if <30/40, due to less grey matter in the left parietal lobe.
The patient in NICU is usually a premature baby. His mortal enemies are: cold, hypoxia, hypoglycaemia, respiratory distress syndrome,
infection; intraventricular haemorrhage; apnoea; necrotizing enterocolitis
• Cold is an issue due to their small SA/Volume ratio; Incubators allow temperature (as well as humidity and FiO2) to be controlled, and also
afford some protection against infection. FiO2 is the fraction of O2 in inspired air, ie 0.6=60% O2.
Michael Grant
• Apnoeic attacks
o Prevalence: 25% of neonates <2.5kg; 90% if <1kg.
o Causes: Respiratory centre immaturity; aspiration; heart failure; infection; glucose; Ca2+; seizures; patent ductus (PDA); airway
obstruction.
o If stimulating the baby doesn’t restore breathing, suck out the pharynx and use
bag-and-mask ventilation.
§ Avoid wild PaO2 fluctuations to prevent ROP (below)
o Tests: CXR; U&E; infection screen; glucose; Ca2+; Mg2+
o If aspiration, give small frequent feeds, or continuous tube feeds. Monitor SAO2
continuously;
o If hypoxic despite an ambient O2 of 40%, consider CPAP or IPPV.
o Caffeine citrate 20mg/kg PO/IVI stat, then 5mg/kg once daily after 24h (fewer SE
than theophyllines)
o Nasal CPAP ± doxapram may prevent hypoventilation.
o Apnoea may be seizure-related,
o Stopping ventilation: Try 4–5 days after apnoea has stopped.
o Prevention: Betamethasone intrauterine maturation
• RoP (retinopathy of prematurity) is adisorder of the developing retina. Major risk

factors are low birth weight and prematurity. Exposure to supplemental oxygen is a
cause, in particular large fluctuations in PaO2.
o Abnormal fibrovascular proliferation or retinal vessels may lead to retinal
detachment and visual loss.
o Prevalence (lower limits): <1000g: 53%; ≤1250g: 43%; ≤1500g: 35%
o Classification: There are 5 stages, depending on site involved, the degree of
retinal detachment, and extent (measured as clock hours in each eye)
o Treatment: Diode laser therapy causes less myopia than cryotherapy
o Screening: see is recommended if <1500g or <32 weeks’ gestation.
o Screening ought to be repeated 1–2 weekly depending on severity of
disease. It must be done by an experienced ophthalmologist.
• Respiratory distress syndrome is a syndrome in premature infants caused by developmental

insufficiency of surfactant production and structural immaturity in the lungs; re-inflation of
collapsed alveoli with each breath exhausts the baby, and respiratory failure follows. It can also
be a consequence of neonatal infection or genetic mutation in genes for surfactant.
• It is distinct from pulmonary hypoplasia which involves a reduction in the number or size
of alveoli
• Affects 50% of babies <30 weeks gestation and presents within a few hours after
delivery
• Risk factors:
o Degree of immaturity
o Male gender
o Delivery: CS delivery, asphyxia, hypothermia
nd
o 2 twin affected more
o Maternal diabetes (poorly controlled can cause RDS in even up to 36/37 weeks)
• Protective factors are typically anything that causes the baby distress in utero that will
trigger early maturation of lungs as an innate mechanism to ready baby for a preterm
birth; e.g.:
o IUGR
o Chorioamnionitis
o Smoking/drugs/alcohol
• Clinical signs:
o Tachypnoea >60/min
o Sternal indrawing/retraction/recession
o Grunting
o Nasal flaring
o Cyanosis on normal air
o CXR: diffuse granular patterns (ground glass appearance) ±
air bronchograms (bronchi made visible by the opacification
of surrounding alveoli) and loss of distinct heart borders
• Differential diagnosis:
o Transient tachypnoea of the newborn (TTN) It usually
resolves after 24h.
o Meconium aspiration
o Congenital pneumonia (group B strep)
o Tracheo-oesophageal fistula (suspect if respiratory problems
after feeds)
• Prevention:
o Betamethasone or dexamethasone should be ordered to all women at risk of preterm delivery from 23–35 weeks
Michael Grant
o Delay preterm labour; erythromycin and tocolytics
• Treatment:
o Delay clamping of cord by 3 min to promote placento–fetal transfusion
o Give oxygen via an oxygen–air blender, using lowest concentration of O2 possible
§ If spontaneously breathing stabilize with CPAP (5–6cm H2O)
o Babies at high risk of RDS should get natural surfactant (reduces mortality and air leaks).
o If gestation <26wks, intubate and give prophylactic surfactant via ET tube
o Rock gently to aid spread in the bronchial tree
o Monitor O2, aim for sats between 85–93% to reduce risk of retinopathy of prematurity and bronchopulmonary dysplasia
o Fluids: Give 10% glucose IVI; Inositol is an essential nutrient promoting surfactant maturation - reduces complications; Full
parenteral nutrition can be started on day 1
• Complications: If any deterioration, consider: blocked or dislodged tube, infection,
faulty ventilator, or pneumothorax. 
• Transient tachypnoea of the newborn (TTN) is caused by fetal lung fluid which is
produced in utero to help development of lungs. Before birth, this should switch to lung
fluid absorption of fluid by a maternal catecholamine surge just prior to labour – thus
those babies delivered by elective CS or induction before term are at risk.
o X-ray appearance “wet lung” with pulmonary venous congestion (circles) in
horizontal fissure (arrow)
o Complications:
§ Usually benign that resolves quickly
§ Difficult to differentiate from congenital heart problems, pneumonia or
persistent pulmonary hypertension of the newborn:
• Fetal circulation fails to transition to normal circulationcausing right to
left shunt with a structurally normal heart, that can be cyanosied even on
100% O2
• Caused by lack of NO synthase, asphycia/acidosis, MAS, infection
• Rx: minimal handling, iontropic support, mechanical ventilation (drug
induced paralysis), pulmonary vasodilators (prostacyclin/MgSO4), inhaled
nitric oxide gas treatment (very effective treatment)
o Management:
§ Supportive O2
§ Avoid early elective CS/inductions
§ May be too SOB to feed so parenternal nutrition
• Bronchopulmonary dysplasia (BPD) complicates ventilation for RDS in 40% of babies of

<1kg birthweight. There is persistent hypoxia ± difficult ventilator weaning (may still be
needed at 36 weeks) Classically, BPD is mainly from barotrauma and oxygen toxicity,
whereas surfactant-related BPD is multifactorial with airway infections triggering
inflammatory cascades.
o Tests: CXR: hyperinflation, rounded, radiolucent areas, alternating with thin denser
lines.
o Histology: necrotizing bronchiolitis with alveolar fibrosis.
o Early complications: IQ; cerebral palsy; feeding problems. O2 desaturation during
feeds is not uncommon.
o Late complications: airways obstruction, airways hyper-reactivity, and hyperinflation.
o Prevention: Steroids (antenatal & postnatal); surfactant and ‘suitably high’ calorie
feeding
Sepsis is common (1–10/1000 births), and

commonly overwhelming (mortality 15–50%)
• Action: ABC; Clear the airway; intubate and
ventilate if necessary.
o This should correct acidosis, so
bicarbonate is rarely needed.
o Set up a colloid IVI (20mL/kg initially)
o Exclude hypoglycaemia; do blood
gases.
• Infection screen:
o Blood culture, virology, FBC,
platelets, glucose, CXR.
o Lumbar puncture: CSF for urgent
Gram stain, cell count, protein &
glucose level, culture, and virology.
o Stool: for virology.
o Urine: microscopy, culture, and
virology.
o ENT swabs: for culture.
Michael Grant
• Antibiotics:
o In early onset infection (ie neonates <48h old), group B streps and E. coli are common.
§ Treat with benzylpenicillin (50mg/kg/12h) and gentamicin (4mg/kg/24h) IV for 10–14 days.
§ An alternative is amoxicillin and cefotaxime
o Late-onset infection (ie neonates over 48h old), coagulase –ve staphs and listeria are possible, so regimens include
flucloxacillin + gentamicin, amoxicillin + cefotaxime or amoxicillin + gentamicin.
§ Vancomycin or teicoplanin
IVH (intraventricular haemorrhage) occurs in 25% if birthweight <1500g.Preterm infants are at risk of IVH
due to unsupported blood vessels in the sub-ependymal germinal matrix and the instability of blood
pressure associated with birth trauma and respiratory distress.
• Delayed cord clamping in prems may decrease risk
• Suspect in neonates who deteriorate rapidly (esp. in week 1)
• Signs: Seizures, bulging fontanelle and cerebral irritability but many will have no clinical symptoms
• Tests: Transcranial Ultrasound; CT
• Complications: IQ, cerebral palsy, hydrocephalus
Necrotizing enterocolitis (NEC) is an inflammatory bowel necrosis.

• Prematurity is the chief risk factor: if weight <1500g, 5–10% develop NEC.
• Other risk factors: enteral feeds, bacterial colonization, mucosal injury, rapid weight gain.
• Signs: If mild, just some abdominal distension. A little blood/mucus may be passed PR.
o If severe, there is sudden abdominal distension, tenderness (± perforation), shock, DIC & mucosal sloughing.
o Pneumatosis intestinalis (gas in the gut wall seen on x-ray) is pathognomonic for NEC
• Prophylaxis: Expressed breast milk; probiotics; oral antibiotics.
• Management: Stop oral feeding (except oral probiotics, eg Bifidobacteria infantis, which can help); barrier nurse; culture faeces;
crossmatch (may get anaemic);
o Give antibiotics: e.g. cefotaxime + vancomycin.
o Liaise early with surgeon; repeated imaging and girth measurement.
o Platelets mirror disease activity; <100≈109/L is ‘severe’
o Laparotomy indications: Progressive distension, perforation (up to 50% die).
Meconium aspiration syndrome (MAS) occurs in the term/near term infant when
meconium, the faecal material that accumulates in the fetal colon during gestation, is passed in
utero, leading to meconium stained amniotic fluid (MSAF).
• MSAF occurs in ~8–25% of births, usually due to fetal distress or advance fetal age but
aspiration only occurs in only 5% of these infants;
• Defined as respiratory distress in the infant born through MSAF which cannot
otherwise be explained, with the assumption that aspiration of meconium mostly occurs
pre-birth
• It may lead to airway obstruction (ball valve effect with airtrapping, atelectasis,
pneumothorax), surfactant dysfunction, pulmonary vasoconstriction, infection
(superinfection with bacteria requiring ABx) and chemical pneumonitis
• Endotracheal suctioning is only needed for those infants who aren’t vigorous at birth
• X-ray changes: Overinflation (arrows), patchy atelectasis (right base in image), patchy
opacification, pneumothoraces (T shows the thymus, lifted by pneumomediastinum)
• Management: Surfactant lavage, ventilation, inhaled nitric oxide and antibiotics are all used
Neonatal jaundice is common occurring in 60% of neonates, although most need no treatment. Jaundice is caused by raised bilirubin
levels. When severe, or not properly managed, kernicterus, a permanent brain damage, may occur. Transcutaneous bilirubin levels
measured by midwives in homes may prevent kernicterus. In
non-Caucasians, the device needs recalibration. Management
of severe neonatal jaundice typically involves phototherapy,
and exchange transfusion if very severe. The threshold
levels for these treatments varies with gestational age, and
postnatal age.
• Hyperbilirubinaemia (<200μmol/L – with low “direct
component” i.e. only small proportion of conjugated)
after >24h (esp. around 3 days to 2 weeks) is usually
‘physiological’: 
o 1 Increased bilirubin production (Hb as high as
180g/L) in neonates due to shorter RBC lifespan
o 2 Decreased bilirubin conjugation due to hepatic
immaturity
o 3 Absence of gut flora impedes elimination of bile
pigment.
o Exclusive breastfeeding due to relatively unknown
casues but linked to low intake of fluids, hormones,
beta-glucuronidase ((esp. if there are feeding difficulties causing dehydration and reduced bilirubin elimination)
• Visible jaundice within <24h of birth is always abnormal
Michael Grant
o Causes:
§ Sepsis causes jaundice due to red cell fragility increasing breakdown (severe
can cause DIC)
§ Rhesus haemolytic disease: +ve direct Coombs test (DCT, p117). 
§ ABO incompatibility: (mother O; baby A or B, or mother A and baby B, or
vice versa) DCT +ve in 4%; indirect Coombs +ve in 8%. Maternal IgG anti-A or
anti- B haemolysin is ‘always’ present.
§ Red cell anomalies: congenital spherocytosis (fragility tests/EMA binding,
glucose-6-phosphate dehydrogenase deficiency
o Tests: FBC; film; blood groups (eg rare group incompatibility.); Coombs test; urine
for reducing agents; syphilis,
• Prolonged jaundice (not fading after 14 days)
o Causes:
§ Breastfeeding;
§ Sepsis;
§ Hypothyroidism;
§ Cystic fibrosis;
§ Biliary atresia (if conjugated and pale stools)
§ Galactosaemia: urine tests for reducing agents (eg Clinitest®) are +ve, but specific tests
(Clinistix®) for glycosuria are –ve (an insensitive test; galactose-1-phosphate uradyl transferase
levels diagnostic)
• Kernicterus refers to the clinical features of acute bilirubin encephalopathy (ABE): lethargy/poor
feeding/hypertonicity/opisthotonus (state of severe hyperextension and spasticity in which an individual's
head, neck and spinal column enter into a complete "bridging")/shrill cry—and chronic bilirubin
encephalopathy, as well as the yellow staining
o Risk is increased with extremely high bilirubin levels (360μmol/L)
o Long-term sequelae include athetoid (writhing) movements, deafness, and IQ.
o It is prevented by phototherapy ± exchange transfusion.
o Phototherapy uses blue light with a wavelength of ~460nm to convert bilirubin to soluble
products (lumirubin and other isomers) that can be excreted without conjugation.
§ Exposing baby will lead to more rapid reduction in serum bilirubin, as will using light from
above and below
§ S/E: decreased T°; eye damage (baby will need eye protection); diarrhoea; separation from
mother; fluid loss.
§ Exchange transfusion uses warmed blood (37°C), 160ml/kg (double volume), given ideally
via umbilical vein IVI, with removal via umbilical artery.
• Monitor ECG, U&E, Ca2+, bilirubin, clotting, FBC, and glucose
• Consider more exchanges if bilirubin goes on rising.
• Stop if the pulse rate fluctuates by >20 beats/min.
• Ensure the volumes exchanged always balance. If anaemic, consider a simple fresh blood
transfusion (20mL/kg).
• Complications (may be fatal): Decreased pulse, apnoea,
reduced platelets, reduced glucose, reduced Na+, reduced
O2 Hb saturation
Neurology
The Spectrum of Clinical Conditions in Neurology
You should be able to describe - aetiology, presentation, natural history, signs,
diagnosis and basic management of an infant/toddler/older child with:
• Headache
• Seizures (various, age-related types)
• Pyogenic meningitis
• Acute encephalitis/encephalopathy
• Spina bifida (variations in severity) and complications
• Cerebral palsy
• Ataxia
• Cerebrovascular disease
• Neuromuscular disorders
• Neurocutaneous syndromes
• Neurodegenerative disorders
EPILEPSY is a tendency to intermittent abnormal electrical brain activity.

Classification depends on whether signs are referable to one part of a hemisphere
(partial epilepsy) or not (generalized), and on whether consciousness is affected
(complex) or not (simple).
Seizures in generalized epilepsy may be:
• Tonic/clonic (grand mal): Limbs stiffen and then jerk with loss LOC
• Absences (petit mal): Brief pauses; eyes may roll up; unaware absence
• Infantile spasms/West syndrome:
Michael Grant
o Peak age: 5 months. Clusters of head nodding
(‘Salaam attack’) and arm jerks, every 3–30sec
o IQ decreased in ~70%.708 EEG is characteristic
(hypsarrythmia).
o Rx: Vigabatrin (SE: visual field defects)
• Myoclonic seizures: 1–4yrs; eg ‘thrown’ suddenly to the
ground.
o Rx: valproate
Partial epilepsy has signs that are referable to part of one

hemisphere
• Complex phenomena: (temporal lobe fits - The
seizures involve sensory changes; for example, (an
olfactory illusion or a memory disturbance) reduced
consciousness; automatisms (lip smacking, rubbing
face, running); fits of pure pleasure,
Causes often none is found but can be attributable to:

• Infection (eg meningitis)
• Increased U&E: Ca2+, Mg2+; Na+
• Hypoglycaemia
• Toxins
• Trauma
• Tuberous sclerosis
• CNS tumour (<2%) or malformation
• Flickering lights, eg TV
• Exercise
Differential diagnosis: Arrhythmias, migraine, narcolepsy, night

terrors, faints (reflex anoxic seizures - paroxysmal, self-limited brief asystole triggered by pain or anxiety), tics, Münchausen’s
Tests
• Expert EEG
• MRI is the preferred choice - it is more sensitive and has no exposure to radiation
• CT may be more available and not require an anaesthetic—use in emergent situations to look for acute haemorrhage/lesions
SIMPLE FEBRILE CONVULSION is a single tonic–clonic, symmetrical generalized seizure lasting <20min, occurring as T° rises rapidly in a
febrile illness.
• Think of: meningo-encephalitis, CNS lesion, epilepsy, trauma, decreased glucose, Ca2+, or Mg2+ if there are:
o Focal CNS signs or CNS abnormality
o Previous history of epilepsy
o The seizure lasts >15min
o There is >1 attack in 24h
• Lifetime prevalence: ~3% of children have at least one febrile convulsion.
• Examination: Find any infection; if any neck stiffness consider meningitis.
• Management: Put in recovery position;
o If fit is lasting >5min: lorazepam IV, buccal midazolam, or diazepam PR. Tepid sponging if hot; paracetamol syrup.
o Consider FBC, U&E, Ca2+, glucose, MSU, CXR, ENT swabs
o To LP or not LP? Risk of pyogenic meningitis is as low (<1.3%) as the risk in a febrile child with no seizures if all the above criteria are
fulfilled
o Avoid LP in the post ictal period as a CNS assessment will be impossible
o If you suspect meningitis, then treat now
• Parental education: Allay fear (a child is not dying during a fit).
o Febrile convulsions don’t usually (<3%) mean risk of epilepsy
o For the 30% having recurrences, teach carers to use buccal midazolam or rectal diazepam 0.5mg/ kg, eg with a 5mg tube
(Stesolid®) if 1–3yrs,1 or a 10mg tube if older only during seizures.
• Further prevention:
o Diazepam PR during fevers has a role; other anticonvulsants are ‘never’ needed.
o Explain that all fevers (eg vaccination-associated) should prompt oral antipyretics, but that this does not necessarily avoid another
seizure, with diazepam PR to hand if needed
• Prognosis: In typical febrile convulsions (defined above) there is no progress to epilepsy in 97%. Risk is much higher if pre-existing CNS
abnormality (50%), epilepsy in a first degree relative, or complex febrile seizures.
Stepwise Rx of status epilepticus:

• Supportive therapy: Secure airway; give O2.
• Set a clock in motion
• Check T°; if raised, give rectal paracetamol (it may be a febrile convulsion)
• Do BP, pulse, glucose, Ca2+ (±Mg2+).
o If hypoglycaemic, give glucose 5ml/kg IV of 10% solution, then 5–10mg/kg/min as 10% glucose IVI.
Michael Grant
• These times refer to elapsed time on the clock from the 1st drug, not gaps between each drug:
Seizure control: proceed to the next step only if fits continue
0min ABC. High flow O2. Estimate weight. Check blood glucose. IV access
Lorazepam 0.1mg/kg IV; slow bolus via a large vein OR buccal midazolam 0.3–0.5mg/kg; squirt half between lower gum and
5min
the cheek on each side.
15min Repeat lorazepam. Call for senior help. Prepare phenytoin.
Phenytoin 20mg/kg IVI; over 20mins. Monitor ECG OR (if on regular phenytoin) : Phenobarbital 20mg/kg over 5mins .
Paraldehyde mixed with equal part of olive oil—0.8mL/kg of mixture (max 10mL) as a single dose PR; avoid contact with
25min
plastics/rubber may be given on direction of senior staff.
Call PICU & your anaesthetist—prepare for intubation locate ET tube,etc p627
45min Rapid sequence induction use Thiopental 4mg/kg. Transfer to PICU
• Tests: SAO2, ECG monitor, glucose, U&E, Ca2+, Mg2+, arterial gases, FBC, platelets, ECG.
o Consider anticonvulsant levels, toxicology screen, blood ammonia, lumbar puncture (after resolution), culture blood and
urine, virology, EEG, MRI, CT, carbon monoxide level, lead level, amino acid levels, metabolic screen
• Once the crisis is over: Refer to a specialist: is MRI or prophylaxis (e.g. with sodium valproate or carbamazepine) needed?
o Aim to use one drug only. Increase dose until fits stop, or toxic levels reached
o Out of the context of status, prophylaxis is typically started after the 2nd seizure.
o Choice of anti-epileptic drug (AED) should be based on epilepsy syndrome/presenting seizure type.
Carbamazepine
• SE: Rash (± exfoliation); reduced platelets, agranulocytosis, aplasia (all rare). It induces its own enzymes, so increasing doses may be
needed.
Sodium valproate (200mg/5mL).
• SE: vomiting, increased appetite, drowsiness, platelets reduced (do FBC pre); Rare hepatotoxicity can be fatal - Monitor LFT, eg in 1st 6
months.
• When prescribing to girls of present and future childbearing potential, warn of teratogenic risk
Ethosuximide The syrup is 250mg/5mL
• Indication: absence epilepsy.
• SE: D&V, rashes, erythema multiforme, lupus syndromes, agitation, headache
Lamotrigine
• Uses: absences and intractable epilepsy as an add-on (when given with valproate if 2–12yrs: 0.15mg/kg/day PO for 2wks, then 0.3mg/kg
daily for 2wks, then by up to 0.3mg/kg every 1–2 weeks. Usual maintenance: 1–5mg/ kg/day (higher if with non-valproate
anticonvulsants: ~2.5–7mg/kg/12h).
Vigabatrin (May be 1st choice in infantile spasms/West syndrome and tuberous sclerosis fits.)
• This blocks GABA transaminase. Consider adding it to regimens if partial seizures are uncontrolled.
• Starting dose: 15–20mg/kg/12h increased after 2wks to a typical dose of 30–40mg/kg/12h (max 150mg/kg/day).
• Blood levels do not help (but monitor concurrent phenytoin: it may fall by ~20%).
• SE: Drowsiness, depression, psychosis, amnesia, diplopia, and field defects (test every year)
Levetiracetam licensed for used as monotherapy for focal seizures—but thought not cost effective
• SE: depression; lethargy; weakness
Diet Consider a high-fat ketogenic diet if 2 drugs fail to work (it can reduce fits by 2⁄3) but it needs supervision.
• SE: constipation, vomiting, energy, hunger.
Education If fits are few, educate teachers on lifting bans on supervised swimming, cycling etc.
• Showers are safer than baths
Michael Grant
• Emphasize compliance/concordance (one seizure may decrease the threshold for the next, ie kindling)
Rising intracranial pressure APLS

Causes:
• Meningoencephalitis; head injury; subdural/extradural bleeds (abused?); hypoxia (eg near-drowning); ketoacidosis; tumours;
thrombosis;1 Reye’s (p652)
Signs: Listless; irritable; drowsy; headache; diplopia; vomiting; tense fontanelle; level of
responsiveness (Children’s Coma Scale if <4yrs);
• If unconscious look for: pupil changes (ipsilateral dilatation); abnormal posturing
(decorticate/decerebrate); Cushing's triad (slow pulse, raised BP and breathing
pattern abnormalities) warns of imminent coning.
• Chronic: papilloedema and hydrocephalus
Management:
• Aim to prevent ischaemia; help venous drainage by keeping head in the midline,
elevated at ~25°
• Give O2. Fan/sponge (tepid water) if T° >40°C.
• Treat hypoglycaemic
• Control seizures
• Don’t do LP: this risks coning.
• If severe, take to ITU to monitor ICP & cerebral perfusion pressure
o CPP = mean arterial pressure – ICP; if CPP <40mmHg cerebral ischaemia
is likely
o Intubate, Give mannitol 20% (check it is crystal-free), eg 2.5mL/kg IVI
over 30min or 3% hypertonic saline (5ml/kg bolus) which may have fewer side effects.
o Dexamethasone: if <35kg,16.7mg IV (20.8mg if >35kg) then as per BNF
o Fluid restriction & diuresis, avoiding hypovolaemia (keep Na+ 145–150mmol/L, osmolarity to 300–310, and CVP to 2–5cmH2O).
o Pulse & BP continuously.
Herpes simplex encephalitis (HSE) is the most treatable encephalitis. Think of it in any febrile child with focal or general seizures and CNS
(esp. temporal lobe) signs ± consciousness.
• Signs are often nonspecific.
• Nasolabial herpes is often absent
• CNS deficits may be mild or gross (eg hemiparesis)
• Tests: CT, EEG and CSF often nonspecific (do PCR). MRI is better than CT.
• Rx: Start aciclovir. Monitor U&E & urine output
o Mortality: ~7%. 60% survive intact.
o CNS sequelae: Kluver–Bucy syndrome (medial temporal lesions involving the Amygdala may present with hyperphagia,
hypersexuality, hyperorality, visual agnosia, and docility.); aphasia; amnesia; auditory agnosia; autism
Spina bifida occulta

This failure of fusion of the vertebral arch is often an incidental finding on X-ray, but there may be an associated overlying skin lesion such as a
tuft of hair, lipoma, birth mark or small dermal sinus, usually in the lumbar region. There may be underlying tethering of the cord
(diastematomyelia), which, with growth, may cause neurological deficits of bladder function and lower limbs. The extent of the underlying
lesion can be delineated using ultrasound and/or MRI scans. Neurosurgical relief of tethering is usually indicated.
Meningoceles usually have a good prognosis following surgical

repair.
Myelomeningoceles may be associated with:

• Variable paralysis of the legs
• Muscle imbalance, which may cause dislocation of the hip,
scoliosis and talipes 
• Sensory loss 
• Bladder denervation (neuropathic bladder) 
• Bowel denervation (neuropathic bowel) 
• Hydrocephalus from the Chiari malformation
• Herniation of the cerebellar tonsils and brainstem tissue
through the foramen magnum, leading to disruption of CSF
flow and non-communicating (abnormal flow with normal
re-absorption) hydrocephalus
Management:
• The back lesion is usually closed soon after birth.
• Paralysis and muscle imbalance – physiotherapy helps prevent joint contractures. Walking aids or a wheelchair help mobility.
• For sensory loss – skin care is required to avoid the development of skin damage and ulcers.
• Neuropathic bladder – an indwelling catheter may be required for a neurogenic bladder, or intermittent urinary catheterisation may be
performed by parents or by older children themselves. There should be regular checks for hypertension, renal function and urinary
infection
o Prophylactic antibiotics may be necessary.
o Medication - such as ephedrine or oxybutynin (anti muscarinic) - may improve bladder function
Michael Grant
• Bowel denervation –regular toileting, laxatives and suppositories may be necessary with a low roughage diet (lesions above L3)
• Scoliosis – is monitored and may require surgical treatment.
• Ventricular dilatation associated with a Chiari malformation – often present at birth and 80% of affected infants require a shunt for
progressive hydrocephalus during the first few weeks of life.
The most severely disabled have a spinal lesion above L3 at birth. They are unable to walk, have a scoliosis, neuropathic bladder,
hydronephrosis and fre-quently develop hydrocephalus.
Types of Neurocutaneous Syndromes

Common neurocutaneous syndromes that affect kids include:
• Neurofibromatosis, types 1 and 2 (NF1 and NF2)
• Sturge-Weber syndrome
• tuberous sclerosis (TS)
• ataxia-telangiectasia (A-T)
Ataxia telangiectasia
This disorder of DNA repair is an autosomal recessive condition. The gene (ATM) has been identified.
There may be mild delay in motor development in infancy and oculomotor problems with
incoordination and delay in ocular pursuit of objects (oculomotor dyspraxia), with difficulty with
balance and coordination becoming evident at school age.
• There is subsequent deterioration, with a mixture of dystonia and cerebellar signs.
• Many children require a wheelchair for mobility in early adolescence.
• Telangiectasia develops in the conjunctiva, neck and shoulders from about 4 years of age.
These children:
o Have an increased susceptibility to infection, principally from an IgA surface antibody defect
o Develop malignant disorders, principally ALL (about 10%)
o Have a raised serumalpha-fetoprotein
Neurofibromatosis type 1 (NF1)

This affects 1 in 3000 live births. It is an autosomal dominant, highly
penetrant condition. One-third have new mutations.
In order to make the diagnosis, two or more of these criteria need to be
present:
o Six or more café-au-lait spots >5mm in size before puberty, >15
mm after puberty
o More than one neurofibroma, an unsightly firm nodular
overgrowth nerve sheath of any nerve
o Axillary freckles
o Optic glioma which may cause visual impairment  
o One Lisch nodule, a hamartoma (disorganized benign mass of
local tissue that grows at same rate as surrounding tissue)
o Bony lesions from sphenoid dysplasia, which can cause eye
protrusion  
o A first-degree relative with NF1
• The cutaneous features tend to become more evident after puberty, and there is a wide spectrum of involvement from mild to severe.
Neurofibromata appear in the course of any peripheral nerve, including cranial nerves. They may look unsightly or cause neurological
signs if they occur at a site where a peripheral nerve passes through a bony foramen.
• Visual or auditory impairment may result if there is compression of the IInd or VIIIth cranial nerve.
Neurofibromatosis type 2 (NF2; bilateral, acoustic or central) is less common and presents in adolescence. Bilateral acoustic neuromata are
the predominant feature and present with deafness and sometimes a cerebellopontine angle syndrome with a facial (VIIth) nerve paresis and
cerebellar ataxia.
• There may be an overlap between the features of NF1 and NF2. Both NF1 and NF2 can be associated with endocrinological disorders, the
multiple endocrine neoplasia (MEN) syndromes.
• Other associations are phaeochromocytoma, pulmonary hypertension, renal artery stenosis with hypertension, and gliomatous change,
particularly in central nervous system lesions.
• Rarely, the benign tumours undergo sarcomatous change. However, most people with the disorder carry no features other than the
cutaneous stigmata.
Tuberous sclerosis
This disorder is a dominantly inherited disorder, but up to 70% are new mutations. Prevalence is 1 in 9000 live births.
• The cutaneous features consist of:
o Depigmented ‘ashleaf’-shaped patches which fluoresce under ultraviolet light (Wood’s light)  
o Roughened patches of skin (shagreen patches) usually over the lumbar spine  
o Adenoma Sebaceum (angiofibromata) in a butterfly distribution over the bridge of the nose and
cheeks, which are unusual before the age of 3 years
• Neurological features are:  
o Infantile spasms/West and developmental delay
o Epilepsy – often focal 
o Intellectual impairment; severe learning difficulties and autistic features to their behaviour
Michael Grant
• Other features are:
o Fibromata beneath the nails (subungual fibromata)  
o Dense white areas on the retina (phakomata) from local degeneration  
o Rhabdomyomata of the heart which are identifiable in the early weeks on echocardiography but usually resolve in infancy  
o Polycystic kidneys.  
As with neurofibromatosis, gliomatous change can occur in the brain lesions. Many people who carry the gene have no stigmata other than
the cutaneous features and no associated neurological features.  CT scans will detect the calcified subependymal nodules and tubers from
the second year of life. MRI is more sensitive and more clearly identifies other tubers and lesions.  
Sturge–Weber syndrome
This is a sporadic disorder with a haemangiomatous facial lesion (a port-wine stain) in the distribution of the trigeminal nerve associated with
a similar lesion intracranially. The ophthalmic division of the trigeminal nerve is always involved
• Calcification of the gyri used to show characteristic ‘rail-road track’ calcification on skull X-ray, but MRI is the imaging modality of choice
nowadays.
• In the most severe form, it may present with epilepsy, learning disability and hemiplegia. Children presenting with intractable epilepsy in
early infancy may benefit from hemispherectomy.
• For children who are less severely affected, deterioration is unusual after the age of 5 years, although there may still be seizures and
learning difficulties.
• There is a high risk of glaucoma, which should be assessed in the neonatal period.
Neuromuscular disorders
Acute post-infectious polyneuropathy

(Guillain–Barré syndrome)
Presentation is typically 2–3 weeks after an upper respiratory tract infection or campylobacter gastroenteritis. There may be fleeting
abnormal sensory symptoms in the legs, but the prominent feature is an ascending symmetrical weakness with loss of reflexes. Sensory
symptoms are less striking with paresis.
• Involvement of bulbar muscles leads to difficulty with chewing and swallowing and the risk of aspiration.
• The maximum muscle weakness may occur only 2–4 weeks after the onset of illness - full recovery may be expected in 95% of cases, this
may take up to 2 years.
• The CSF protein is characteristically markedly raised, but this may not be seen until the second week of illness.
o The CSF white cell count is not raised.
• Nerve conduction velocities are reduced.
Management of post-infectious polyneuropathy is supportive, particularly of respiration. The disorder is probably due to the formation of
antibody attaching itself to protein components of myelin.
• Corticosteroids have no beneficial effect and may delay recovery.
• Ventilator-dependent period can be significantly reduced by immunoglobulin infusion.
• If this is not successful, plasma exchange may be effective.
Myasthenia gravis
This presents as abnormal muscle fatiguability which improves with rest or anticholinesterase drugs.
• Transient Neonatal: occurs in 10 to 15% of babies born to mothers afflicted with the disorder, and disappears after a few weeks.
Juvenile myasthenia
This is similar to adult autoimmune myasthenia and is due to binding of antibody to acetylcholine receptors on the post-junctional synaptic
membrane. This gives a reduction of the number of functional receptors.
• Presentation is usually after 10 years of age with ophthalmoplegia and ptosis, loss of facial expression and difficulty chewing
• Generalised, especially proximal, weakness may be seen.
• Diagnosis is made by observing improvement following the administration of intravenous edrophonium and can be further confirmed
by testing for acetylcholine receptor antibodies (seen in 60–80%) or, more rarely, anti-muscle-specific kinase (anti-MuSK) antibodies.
• Treatment is with the anti-muscarinic drugs neostigmine or pyridostigmine.
The muscular dystrophies

This is a group of inherited disorders with muscle degeneration, often progressive.
Duchenne muscular dystrophy is the most common phenotype, affecting 1 in 4000 male infants
and is an X-linked recessive disorder, although about a third have new mutations. It results from a
deletion at Xp21. This site codes for a protein called dystrophin, which connects the
cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell
membrane.
• This triggers an influx of calcium ions, a breakdown of the calcium calmodulin complex and
an excess of free radicals, ultimately leading to myofibre necrosis.
• The serum creatine phosphokinase (CPK) is markedly elevated. Some countries, e.g.
Wales, have introduced neonatal screening for Duchenne dystrophy
• They will show Gowers sign (the need to turn prone to rise);
• Pseudohypertrophy of the calves because of replacement of muscle fibres by fat and
fibrous tissue
• Children present with a waddling gait and/or language delay; and Scoliosis is a common
complication.
Michael Grant
Although the average age of diagnosis remains 5.5 years, children often become
symptomatic much earlier. In the early school years, affected boys tend to be
slower and clumsier than their peers. The progressive muscle atrophy and
weakness means that they are no longer ambulant by the age of about 10–14
years.
• Life expectancy is reduced to the late twenties from respiratory failure or
the associated cardiomyopathy. About one-third of affected children have
learning difficulties.
• Management:
o Appropriate exercise helps to maintain muscle power and
mobility and delays the onset of scoliosis.
o Contractures, particularly at the ankles, should be prevented by
passive stretching and the provision of night splints
o Scoliosis is managed with a truncal brace, a moulded seat and
ultimately surgical insertion of a metal spinal rod
o Respiratory aids, particularly overnight CPAP (continuous
positive airway pressure) or non-invasive positive pressure
ventilation (NIPPV), may be provided to improve the quality of life.
o Parent self-help groups are a useful continuing source of information and support for families.
o Ambulant children with Duchenne dystrophy are increasingly treated with corticosteroids (prednisolone for 10 days each
month) to preserve mobility and prevent scoliosis - mechanism is not known.
Becker muscular dystrophy

In Becker dystrophy some functional dystrophin is produced. The features are similar to those of Duchenne dystrophy but clinically the
disease progresses more slowly. The average age of onset is 11 years, inability to walk in the late twenties, with life expectancy being from
the late forties to normal.
Congenital muscular dystrophies

This is a heterogeneous group of disorders, most with recessive inheritance, which present at birth or early infancy with weakness, hypotonia or
contractures. Typically the proximal weakness is slowly progressive with a tendency to contracture when the ability to walk is lost. Some may run
a more static course. Biopsy shows dystrophic features with
a reduction of one of the extracellular matrix proteins
such as laminin (most common); or one of several glycosyl-
transferases. These dystrophies may be linked with central
nervous abnormalities, which may result in learning
difficulties.
Oncology
The Spectrum of Clinical Conditions in Oncology
You should be able to describe - aetiology, presentation,
natural history, signs, diagnosis and basic management
of:
• Tumours
o Brain
o Bone
o Neuroblastoma
o Wilm's tumour (nephroblastoma)
o Retinoblastoma
Brain tumours
In contrast to adults, brain tumours in children are almost
always primary and 60% are infratentorial. They are the
most common solid tumour in children and are the leading
cause of childhood cancer deaths in the UK. The types of
brain tumour are:
• Astrocytoma (~40%) – varies from benign to highly
malignant (glioblastoma multiforme)
• Medulloblastoma (~20%) – arises in the midline of the
posterior fossa. May seed through the CNS via the CSF
and up to 20% have spinal metastases at diagnosis
o Associated with neurofibromatosis 1 and prior
radiation
• Ependymoma (~8%) – mostly in posterior fossa where
it behaves like medulloblastoma
• Brainstem glioma (6%) 
• Craniopharyngioma (4%) – a developmental
• tumour arising from the squamous remnant of Rathke
pouch. It is not truly malignant but is locally invasive
and grows slowly in the suprasellar region.
Michael Grant
• Arrange urgent referral if unexplained headache and/or focal symptoms, eg progressive weakness or numbness, unsteadiness, diffculty
speaking, or vision changes/VI nerve palsy.
• Consider brain tumours in children with lethargy, behavioural change, visual disturbances, diabetes insipidus (polyuria/polydipsia),
growth disturbances (e.g. growth failure, delayed/arrested/precocious puberty), nausea ± vomiting.
• Tests: MRI/CT ± EEG.
• Options: Excision if possible; CSF shunting; radiotherapy; chemotherapy alone.
• Other space-occupying lesions:
o Aneurysms; haematomas; granulomas; tuberculomas; cysts (cysticercosis); abscess: suspect if ICP up, with T° and WCC
Bone tumours
Malignant bone tumours are uncommon before puberty.
• Osteogenic sarcoma is more common than Ewing
sarcoma, but Ewing sarcoma (malignant small, round, blue
cell tumor) is seen more often in younger children. Both
have a male predominance.
• Clinical features The limbs are the most common site.
Persistent localised bone pain is the characteristic
symptom, usually preceding the detection of a mass, and is
an indication for early X-ray. At diagnosis, most patients are
other-wise well.
• Investigations Plain X-ray is followed by MRI and bone scan.
A bone X-ray shows destruction and variable periosteal new bone formation.
o In Ewing sarcoma, there is often a substantial soft tissue mass. Chest CT is used to assess for lung metastases and bone marrow
sampling to exclude marrow involvement.
• Management In both tumours, treatment involves the use of combination chemotherapy given before surgery. Whenever possible,
amputation is avoided by using en bloc resection of tumours with endoprosthetic resection
o In Ewing sarcoma, radiotherapy is also used in the management of local disease, especially when surgical resection is impossible or
incomplete, e.g. in the pelvis or axial skeleton.
Neuroblastoma This may be thought of as an embryonal neoplasm, derived from sympathetic

neuroblasts. presenting with decreasing frequency from birth to 5yrs of age. Some forms regress,
while others present after 18 months old (eg with metastases ± DVT) are highly malignant (outlook
is poor and has not improved over the last 25yrs).
• Prevalence: 1:6000–1:10,000—the most common solid tumour in the under-5s.
• Signs: Abdominal swelling.
• Metastatic sites: Lymph nodes, scalp, bone (causing pancytopenia ± osteolytic lesions).
o Urinary excretion of catecholamines (vanillylmandelic & homovanillic acids) are raised.
• Treatment: Refer to special centre. Excision (if possible) and chemotherapy (eg
cyclophosphamide + doxorubicin)
• Prognosis: Worse if certain genotypes (pseudodiploid karyotypes, chromosome 1p deletions,
N-myc gene amplifications), less mature catecholamine synthesis, and if >12 months old.
• Prevention: Pre-morbid screening by looking for excretion of catecholamines in the urine
detects disease early, but may not to save lives.
Retinoblastoma is the most common primary intraocular tumour in children with an incidence 1 in 15,000 live births.
• Signs: Strabismus and leukocoria (ie a white pupil)
o Always suspect retinoblastoma when the red reflex is absent (the mother may come with a photo showing only one eye reddened
during flash photography)
• Inheritance:
o Hereditary retinoblastoma: there is a mutation of the Rb gene (tumour suppressor) at 13q14. Inheritance is autosomal dominant
with 80% penetrance. With one altered allele in every cell, if a retinal cell undergoes mutation in the other allele then a
retinoblastoma results.
§ Secondary malignancies such as osteosarcoma and rhabdomyosarcoma are more frequent; main causes of death
• Treatment:
o There is a trend away from enucleation (eye removal) – but may be needed in large or locally invasive tumours
o Aim towards focal procedures to preserve eye and sight, if possible.
o Chemotherapy Useful in bilateral tumours: Combination of carboplatin, etoposide and
vincristine
o External beam radiotherapy has a role (risk of secondary non-ocular cancers in the radiation
field, esp. if carrying the RB-1 mutation).
o Ophthalmic plaque brachytherapy has a more focal and shielded radiation field, and may
carry less risk, but is limited to small–medium retinoblastomas in accessible locations.
o Cryotherapy and transpupillary thermotherapy (TTT) can give control of selected small
tumours. ‘Chemoreduction’ is achieved by IV or subconjunctival chemotherapy to allow TTT,
cryotherapy, and radiotherapy.
Screening parents and siblings This is needed for accurate genetic counselling and to allow
presymptomatic treatment. Germ-line mosaicism must be considered as a genetic transmission
pattern – high risk to future offspring.
Michael Grant
Wilms’ nephroblastoma This is the commonest renal tumour of childhood (6–7% of all malignancies). It is an undifferentiated mesodermal
tumour of the intermediate cell mass. It may be sporadic, or familial (2%), or associated with Beckwith–Wiedemann syndrome (overgrowth
disorder usually present at birth: macroglossia, macrosomia, neonatal hypoglycemia),
aniridia, GU malformations (eg cryptorchidism), and retardation (WAGR) One of the
Wilms’ tumour genes (WT1 on chromosome 11) encodes a protein which is a
transcriptional repressor downregulating IGF-II, an insulin-like growth factor.
Median age at presentation: 3.5yrs. 95% are unilateral.
Staging:
I Tumour confined to the kidney
II Extrarenal spread, but resectable
III Extensive abdominal disease
IV Distant metastases
V Bilateral disease
• The patient: Features include fever, flank pain, an abdominal mass. Haematuria is not common.
• Ultrasound: renal pelvis distortion; hydronephrosis.
• CT/MRI provide the detailed anatomical information needed for surgical planning
• Management: Avoid biopsy; nephrectomy + vincristine and actinomycin for 4 weeks pre-op can cure.
o A 2-drug regimen is recommended for early Wilms’ (without radiotherapy); more advanced stages need a 3-drug regimen + radio-
therapy.266 Genetic and biological factors guide risk categorization and help individualize care.
o Prognosis: ~90% long-term survival
Renal
features and investigations).
• Haematuria
• Proteinuria
• Hypertension
• Polyuria
• Dysuria
You should be able to describe - aetiology, presentation, natural
history, signs, diagnosis and basic management of an
◦ Nephrotic and nephritic syndromes
◦ Fluid and electrolyte imbalance
◦ Acid/base disturbances
◦ UTI
◦ Enuresis
◦ Hypertension
◦ Hydronephrosis
◦ Acute/chronic renal failure
◦ Vesicoureteric reflux
Childhood urinary tract infection (UTI)

Presentation:
• Often the child may be non-specifically ill: Infants may present with collapse and
septicaemia, and toddlers as vomiting, ‘gastroenteritis’, failure to thrive, colic, or
PUO.
• Many with dysuria and frequency have no identifiable UTI, and often have vulvitis.
• The urinary tract is normal in most with UTI, but ~35% have vesico-ureteric
reflux (VUR), ~14% have renal scars (most have reflux too), ~5% have stones,
~3% develop hypertension.
Definitions:
• Bacteriuria: Bacteria in urine uncontaminated by urethral flora. It may be covert
(‘no’ symptoms), and can lead to renal scarring, increased BP, and, rarely, chronic
renal failure.
• UTI denotes symptomatic bacteriuria that may involve different GU sites (
loin/suprapubic tenderness; fever; dysuria).
• Chronic pyelonephritis is a histological/radiological diagnosis.
Juxtaposition of a cortex scar and a dilated calyx is the key feature. It is a
big cause of hypertension and can result in renal failure, eg if the kidneys are
congenitally dysplastic.
• During micturition, urine may reflux up ureters, seen on a micturating
cystogram (requires catheterization) or MAG3 scan (oral Tc agents -
catheterization not needed)
o Grade: I Incomplete filling of upper urinary tract, without dilatation.
o Grade: II Complete filling ± slight dilatation
o Grade: III Ballooned calyces
Michael Grant
o Grades: IV Megaureter
o Grade V Megaureter + hydronephrosis
UTI incidence Boys: ≤0.23%/yr; girls: 0.31–1%; ratios are reversed in neonates.
• Recurrence: 35% if >2yrs old.
• Prevalence of covert bacteriuria in schoolgirls: ~3%.
• Prevalence of associated GU anomalies: 40% (1⁄2 have reflux; others: malpositions, duplications, megaureter, hydronephrosis).
• Renal scars and age: We used to concentrate on treating babies early, thinking new scars were rare after 4yrs old, but prospective 99mTc
dimercaptosuccinate (DMSA) scintigraphy (the best test) shows new scars appearing on repeat scans in 43% of those <1yr old, 84% of
those aged 1–5, and 80% of those >5yrs old.
Tests:
• Dipstick all ward urines. If nitrites or WCC +ve, get a clean catch (or a suprapubic aspirate or catheter sample; bag urines have many false
positives from vulvitis or balanitis – inflamm. Of glans penis). Wash the genitals gently with water, and tap repeatedly in cycles of 1min with
2 fingers just above the pubis, 1h after a feed, and wait for a clean voided urine (CVU) sample, avoiding the stream’s 1st part.
o Do prompt microscopy2 & culture. >108 organisms/L of a pure growth signifies UTI.
• For suprapubic aspiration, ward ultrasound helps identify a full bladder. Method: clean skin over the bladder; insert a 21G needle in the
midline 1cm above symphysis pubis. Aspirate on advancing (any organisms found are significant).
• Ultrasound (us): US is cheap, non-invasive, getting more accurate, and is
worthwhile in 1st UTIs (a good prenatal scan may suffice); sensitivity,
specificity, positive predictive value, and negative predictive value for de-
tecting reflux are 18%, 88%, 23%, and 83%, respectively.
o A right kidney longer than the left by ~10 mm is a good predictor of an
abnormal DMSA scan.
o Reserve renography for: infants Recurrent UTI and +ve family history of
GU abnormality. If these are present and US is normal, proceed to
99Technetium renography—static for scarring (99mTc DMSA scan,
dynamic for obstructive uropathy) ± isotope cystography.
• Micturating cystourethrography (MCU) is still the best way of excluding
reflux—but it is said that if DMSA is negative, MCU ‘never’ shows significant
reflux. In general, it is not needed in over 1yr olds if initial tests are normal,
pyelonephritis is unlikely, there is no family history of reflux, and there are
no recurrent UTIs; it is invasive and unpleasant, but careful preparation with
play therapy mitigates this. If it is done ill-advisedly on an
uncomprehending and angry toddler, it may constitute assault
Treatment and prevention of urinary infections

Antibiotic treatment:
• Age <3 months: IV amoxicillin + gentamicin or IV cephalosporin alone
• Child >3 months with uncomplicated lower UTI: 3-day course of
trimethoprim1 50mg/5mL, 4mg/kg/12h (max 200mg) PO ± prophylaxis,
nitrofurantoin, or amoxicillin/co-amoxiclav
o •Avoid constipation
o Oral fluids
o Encourage full voiding
o Repeat MSU
o Resistance to trimethoprim and ampicillin renders monotherapy
insuffcient in some places
• If the child or infant is ill (pyelonephritis + septicaemia) and blind
parenteral therapy is needed, gentamicin (5–7mg/kg/day) may be given in
a once-a- day regimen (IM if IV access fails); S/E nephrotoxicity, ototoxicity,
or renal scarring.
• Treating ureteric reflux: If prophylactic antibiotics fail, ureteric
reimplantation can reduce reflux, but scarring remains. Keep on
antibiotic prophylaxis.
• Consider prophylaxis if recurrent UTI, significant GU anomaly/renal
damage. Example: trimethoprim prophylaxis (2mg/kg at night, max
100mg), e.g. while awaiting imaging—and sometimes indefinitely (optimum
duration is unknown, but may be after 2 negative cystograms, if the
indication is reflux). Consider screening siblings for reflux. Prophylaxis can
be stopped after reflux has been ruled out if there is no scarring.
• Surgical correction of moderate reflux is ‘unlikely to be beneficial’, and
in minor reflux is ‘likely to be harmful’
Acute kidney injury AKI (Previously acute renal failure): Characterized by a

rapid rise in creatinine or development of oliguria/anuria.
• Causes:
o In developed nations AKI occurs secondary to cardiac surgery, bone marrow transplantation, toxicity (NSAIDs, aminoglycosides,
vancomycin, aciclovir and contrast nephropathy) and sepsis,
Michael Grant
o In the tropics: diarrhoea/dehydration (50%); glomerulonephritis (34%); drug-induced haemolysis in G6PD deficiency (5%); snake bite
(4%); haemolytic uraemic syndrome (2%); myoglobinuria (OHCM p307).
• Severity: The paediatric RIFLE criteria stratifies severity of AKI based on changes in creatinine, estimated creatinine clearance and urine
output.
• Acute Tubular Necrosis causes:
o Crush injury
o Burns
o Dehydration
o Shock
o Sepsis
o Malaria
• Investigations:
o Plasma chemistry: K+ ; creatinine ; urea ; PO43– or ; Ca2+ ; Na+ ; Cl–
o MSU: Are there red cell casts (=GN)? If no RBCs seen but Labstix +ve for RBCs, consider haemo/myoglobinuria
o Other tests: ECG, serum and urine osmolality, creatinine, acid–base state, PCV, platelets, clotting studies (DIC), C3, ASO titre, ANA
(antinuclear antibody)
o Radiology: Arrange prompt abdominal ultrasound. Are the ureters dilated (eg stones: 90% radio-opaque)? If so, urgent surgery may
be required.
o Treatment: Remove or reduce the cause promptly.
• Treat shock and dehydration —then: 
o If urine/plasma (U/P) osmolality ratio is >5 the kidneys concentrate well; the oliguria should respond to rehydration.
o If the U/P ratio is low, try for a diuresis: furosemide 2–5mg/kg/6h IV slowly,)
o Monitor BP. If BP rises: nitroprusside
o 24h fluid requirement: Avoid overhydration. Replace losses + insensible loss (12–15mL/kg). Aim for weight loss (0.5%/day).
o Give no K+. Monitor ECG: Tall T-waves and QRS slurring prompt urgent lowering of K+, with IV salbutamol 4μg/kg or 5mg
nebulized (2.5mg if <25kg). A less easy to use alternative (if >1month old) is glucose with soluble insulin. Also consider polystyrene
sulfonate resins 0.5–1g/kg max 60g PO and calcium gluconate (10%, 0.5mL/kg IV over 10min; monitor ECG: stop IVI if heart rate
falls) to counteract electrophysiological effect of hyperkalaemia.  
o High-energy, low volume infant renal formulas may prevent fluid excess.  
o Consider renal replacement therapy as soon as fluid overload occurs. Many centres now prefer continuous haemofiltration to
peritoneal dialysis.
o Improvement is ushered in with a diuretic phase
Haemolytic uraemic syndrome (HUS) Essence: Acute microangiopathic haemolytic anaemia (schistocytes, burr cells), thrombocytopenia ,
renal failure + endothelial damage to glomerular capillaries.
• Typical HUS (95%) is associated with diarrhoea, atypical HUS (5%) is not (it is a disease of complement dysregulation).
• Typical HUS is more frequent in the summer months, and typically occurs in children <3yrs. It is associated with Shiga toxin producing E.
coli type O157:H7
• Other causes: Shigella, HIV, SLE, drugs, tumour, scleroderma,
• Signs: Colitis > haemoglobinuria > oliguria ± CNS signs: encephalopathy and coma. LDH . WCC . Coombs –ve. PCV
• Mortality: 5–30%
• Treatment: Supportive. Get help. Treat renal failure. Relapses in TTP may be preventable by steroids, splenectomy, or vincristine
Chronic renal failure Causes: Congenital dysplastic kidneys, pyelonephritis, glomerulonephritis, chronic infection, reflux nephropathy; AKI
leading to cortical necrosis. Monitor growth, BP, U&E, Ca2+ (often down), PO43– (often up). 
The Child: Weakness, tiredness, vomiting, headache, restlessness, twitches, BP , hypertensive retinopathy, anaemia, failure to thrive, seizures,
and coma. Treatment:
• Talk with experts about haemodialysis & transplants.
• Get a dietician’s help. Calorie needs may not be met if vomiting is a problem. Eggs & milk may be appropriate (high biological protein
value). Provide protein at a level of 2.5g/kg/24h. Vitamin drops may be needed. Nasogastric or gastrostomy tube feeding has a role.
• Growth hormone therapy combined with optimal dialysis improves growth
• Acidosis is common, needing no treatment if serum bicarb is ≥20mmol/L.
• Renal osteodystrophy: A bone disease resulting from poor mineralization due to renal failure, causing poor growth, muscle weakness,
slipped epiphyses, bone pain, and bone deformity (±cranial nerve lesions). It is like rickets and low bone turnover osteomalacia.
o If glomerular filtration falls to <25% of normal, compensatory mechanisms to enhance phosphate excretion fail;
resulting hyperphosphataemia promotes hypocalcaemia, so PTH rises, which enhances bone resorption and leads to
marrow fibrosis (osteitis fibrosis cystica).
o The failing kidneys cannot convert enough 25-hydroxycholecalciferol to active 1,25-dihydroxycholecalciferol, so GI
calcium absorption falls
o Hyperphosphataemia is treated with phosphate binders, eg calcium carbonate taken just before food. This combines
with dietary phosphate to form calcium phosphate, which is expelled in faeces
o If Ca2+ is low despite correcting serum phosphate, give 1,25-dihydroxycholecal-ciferol (calcitriol). SE: renal function
down, hypercalcaemia, and hyperphosphataemia.
o Because normal bone requires adequate levels of PTH to promote bone modelling, over- suppression of PTH may cause
adynamic osteodystrophy
o Anaemia is common, and is the result of reduced erythropoietin (± poor iron and folic acid intake). A typical Hb is 6–
9g/dL.
§ Do not transfuse, as this suppresses erythropoietin production
§ Erythropoietin may be indicated (sc in pre-dialysis and peritoneal dialysis patients, and IV if on haemodialysis).
Michael Grant
• Hypertensive emergencies: Get expert help. While awaiting this, use sodium nitroprusside. Protect from light. Monitor BP continuous-
ly; dose slowly to the required level. CI: severe hepatic impairment. Withdraw over 20min to prevent rebound hypertension. If used for
>1 day, cut dose to 4μg/kg/min IVI. Labetalol is an easy-to-use alternative, eg 0.25mg/ kg/dose IV, doubled every 15min (as needed)
up to 3mg/kg/h IV; CI: phaeochromocytoma
Acute nephritis is essentially Haematuria & oliguria (±Incread BP, ± uraemia) produced by an immune glomerulonephritis (GN) in the
kidney.
• Uncomplicated presentation: Haematuria; oliguria; BP raised (50%); periorbital oedema; fever; GI disturbance; loin pain
• Complicated presentations: 
o Hypertensive encephalopathy: Restless; drowsy; bad headache; fits; vision reduced; vomiting; coma. 
o Uraemia: Acidosis, twitching, stupor, coma.
o Cardiac: Gallop rhythm, cardiac failure ± enlargement, pulmonary oedema.
• Blood tests: Urea raised in 2⁄3; ESR raised; acidosis. Complement (C3 ) often reduced 2–8 weeks after onset (not in Henoch–Schönlein
purpura). Also ASO titre, antinuclear factor (ANA), anti-DNA antibodies (if SLE suspected), anti-neutrophil cytoplasmic (ANCA)
antibodies (if vasculitis suspected), syphilis serology, blood cultures, virology
• MSU: Count RBCs, WBCs, hyaline, granular casts; red cell casts mean glomerular bleeding. Skilled phase-contrast microscopy detects
odd-shaped red cells, signifying glomerular bleeding
o 24h urine for protein and creatinine clearance. Check urine culture, and specific gravity (normal range: infants ~1.002–1.006;
child/adult ~1.001–1.035).
• Other tests: Renal ultrasound; renal biopsy, check platelets & clotting pre-op
Poststreptococcal glomerulonephritis (PSGN) presents 7–21 days after a streptococcal infection (pharyngitis, impetigo) with gross
haematuria (cola-coloured urine) and oedema + hypertension, malaise, anorexia, fever and abdominal pain.
• Urine: Proteinuria, RBC casts ± oliguria
• Blood: urea up, creatinine up, C3 down. Recent streptococcal infection should be confirmed (serum ASO titre.
• Treatment: Na+ restriction, diuretics, antihypertensives. Restrict protein in oliguric phase. Give penicillin orally for 7–10 days. Check BP
often.
o Oedema resolves in 5–10 days; however, hypertension, haematuria and proteinuria may last for several weeks. Prognosis is very
good (95% full recovery)
o If encephalopathy, give nitroprusside.
Nephrotic syndrome (nephrosis) is seen as oedema, proteinuria

(>40mg/m2/h), hypoproteinaemia ± hypercholesterolaemia. In 90%
the cause is unknown, but any of the causes of nephritis (above) can
cause nephrosis too.
• Histology: Usually minimal change GN (often associated with
allergy and IgE production)
• Symptoms: Anorexia, GI disturbance, infections, irritability; then
oedema (periorbital, genital), ascites, oliguria
• Urine: Frothy; albuminous ± casts; Na+ down (secondary
hyperaldosteronism)
• Blood: Albumin down (so total Ca2+ down too); urea and
creatinine usually normal
• Renal biopsy: Reserve this for older children with any of:
haematuria, BP down, urea up, if protein loss is unselective (ie
large molecular weights as well as small), and treatment ‘failures’.
SE: haematuria; renal haematoma.
• Complications: Pneumococcal peritonitis or other spontaneous
infections. Consider pneumococcal vaccination if >2yrs
• Treatment: Get help. Limit oedema with protein-controlled
(3g/kg/24h) low-Na+ diet (<50mmol/24h). Consider
furosemide 0.5–1mg/kg/8h slow IV/PO + spironolactone (1–
3mg/ kg/24h PO, max 9mg/kg/24h if resistant—use lower doses
in neonates).
o Prednisolone 60mg/m2/day (max 80mg) for 6 weeks, then
40mg/m2/48h for ≥6 weeks. 90% respond in 8 weeks.
o If steroid toxicity and relapsing NS, consider
cyclophosphamide, eg 2mg/kg/day for ≥8 weeks (SE:
haemorrhagic cystitis; WCC down)
Enuresis
Infrequent bedwetting (<2 nights/week) occurs in ~20% at 41⁄2yrs and
8% at 91⁄2. 1–2% of >15y continue to wet the bed, usually from
delayed maturation of bladder control (family history often +ve).
• Tests for diabetes, UTI and GU abnormality (p174) can
occasionally yield surprises
• ‘Secondary enuresis’ implies wetness after >6 months’
dryness, and raises concerns about worries, illness, or abuse.
• History: Ask about nights per week he wets the bed? Does it
Michael Grant
happen more than once per night? Severe bedwetting is less likely to resolve spontaneously. Are there any daytime symptoms?
Frequency/ urgency may indicate an overactive bladder. How much does he drink during the day? Is there constipation/soiling;
history of recurrent UTI (underlying urological abnormality)? If the child was dry and recently started bedwetting consider possibility of
child abuse.
• Treatment: Start with advice and reassure parents than many children continue to wet the bed after achieving day-time dryness.
o Ensure that caffeine based drinks are avoided and the toilet is used regularly during the day
o A system of rewards for agreed behaviours (eg drinking recommended levels of fluid, using the toilet before bedtime, taking
medicines, or helping change the sheets (not for dry nights which the child can't control) may be effective.
o Alarms (± vibrations) triggered by urine in the bed can make 56% dry at 1yr; relapses are preventable by continuing use after
dryness. They are cheap or loanable from Child Guidance Services (or equivalent)—eg Drinite®.747 www.bedwetting.co.uk.
o Desmopressin sublingual dose (if >5yrs): 120μg at bedtime (max 240μg
Vesicoureteric reflux VUR) is a developmental anomaly of the vesicoureteric junctions.

The ureters are dis placed laterally and enter directly into the bladder rather than at an
angle
• It is familial, with a 30–50% chance of occurring in first-degree relatives. It may also
occur with bladder pathology, e.g. a neuropathic bladder or urethral obstruction, or
temporarily after a UTI.
• Its severity varies from reflux into the lower end of an undilated ureter during
micturition to the severest form with reflux during bladder filling and voiding, with a
distended ureter, renal pelvis and clubbed calyces
• Mild reflux is unlikely to be of significance, but the more severe degrees of VUR may
be associated with intrarenal reflux (IRR), the backflow of urine from the renal pelvis
into the papillary collecting ducts; associated with a particularly high risk of renal
scarring if UTIs occur.
• There is controversy as to whether renal scarring is a congenital abnormality already
present in children with reflux and which predisposes to infection or if children with
reflux have normal kidneys at birth which are damaged by UTIs and that preventing
UTIs in these children prevents scars. Reflux tends to resolve with age especially lower
grades of VUR.
• Reflux with associated ureteric dilatation is important, as:
o Urine returning to the bladder from the ureters after voiding results in incomplete
bladder emptying, which encourages infection
o The kidneys may become infected (pyelonephritis), particularly if there is
intrarenal reflux
o Bladder voiding pressure is transmitted to the renal papillae; this may contribute
to renal damage if voiding pressures are high.
• Infection may destroy renal tissue, leaving a scar, resulting in a shrunken, poorly functioning segment of kidney (reflux nephropathy).
If scarring is bilateral and severe, chronic renal failure may develop. The risk for hypertension in childhood or early adult life is variously
estimated to be up to 10%.
• Investigation
o Mild reflux usually resolves spontaneously, and operative intervention to stop reflux has not been shown to decrease renal damage.
o Prompt ABx treatment.
o There has, therefore, been a move away from extensive investigation of all children with UTIs to those who have had atypical or
recurrent UTIs. Atypical UTI includes:
§ Seriously ill or septicaemia  
§ Poor urine flow  
§ Abdominal or bladder mass  
§ Raised creatinine  
§ Failure to respond to suitable antibiotics within 48 h  
§ Infection with non-E.coli organism.  
o An initial ultrasound will identify:
§ Serious structural abnormalities and urinary obstruction
§ Renal defects (but poor at identifying renal scars).
§ Subsequent investigations will depend on the results of the ultrasound. The need for any investigations in a child with only
bladder symptoms (lower urinary tract infection/cystitis) is also controversial. If urethral obstruction is suspected (abnormal
bladder in a boy),  
Respiratory
• Apnoea
• Tachypnoea
• Cough
• Stridor
• Wheeze
• Grunting
• Snoring
• Recurrent lung infections
Michael Grant
The Spectrum of Clinical Conditions in Respiratory
◦ URTI (pharyngitis, tonsillitis, otitis media)
◦ LRTI (bronchiolitis, pneumonia)
◦ Acute epiglottitis
◦ Viral croup
◦ Asthma
◦ Cystic fibrosis
URTI
Stridor is a musical noise heard in inspiration from partial

obstruction at the larynx or large airways. “Sterto” is an
inspiratory noise like snoring, coming from pharynx obstruction
(its adjective is stertorous; commoner in the obese).
• Children’s airways are narrower and more readily deformed
than adult airways, so obstruction happens faster and more
dramatically.
• Look for other signs: swallowing diffculty/drooling,
pale/cyanosed, using accessory muscles of respiration;
downward plunging of the trachea with respiration
(tracheal tug); all are grave signs and mean impending
obstruction.
• Causes:
o Congenital: Laryngomalacia, web/stenosis, vascular rings (conhenital defect in which trachea encircled by great vessels)
o Inflammation: Laryngitis, epiglottitis, laryngotracheobronchitis, anaphylaxis
o Tumours: Haemangiomas or papillomas (usually disappear with onset of immunity—but may require laser treatment before). 
o Trauma: Thermal/chemical—or from intubation. 
o Miscellaneous: Airway or oesophageal foreign body; vocal cord paralysis.
Acute Laryngotracheobronchitis/”Croup” is the leading cause of stridor with a

barking cough (much commoner than epiglottitis).
• 95% are viral, eg parainfluenza (ribavirin can help, e.g. in
immunodeficiency)
• Causes: Parainfluenza virus (1, 2, 3), respiratory syncytial virus,
measles (rare). Pathology: Subglottic oedema, inflammation, and
exudate. Croup is classified into mild/moderate and severe
disease. : Mild/moderate may be sent home if settles—eg with
dexamethasone, 0.15mg/kg PO stat (some give more420) or
prednisolone 1–2mg/kg stat
• Bacteria (klebsiella; diphtheria) & fungi are rare.
• If there is cough and no drooling, croup is almost always the
diagnosis.
• Usually self-limiting; treat at home (± antibiotics).
• Admit (eg to ITU) if severe.
• In children, CXR may show ‘steeple sign’ of a tapering trachea.
• Signs: Stridor, barking cough, hoarseness from obstruction in the region of the larynx.
• Age: <6yrs.
• Epidemics: Autumn
• Anecdotal evidence says that warm, humid air helps, but mist tents have lost favour: they frighten, and subsequent hyperventilation
worsens distress.
• In hospital: Aim for minimal interference and careful watching by experienced nurses.
o Watch for severe signs: Restlessness; cyanosis (give O2); sternal retractions; rising pulse/respiratory rate; tiredness.
o If severe, stridor will be very soft due to reduced volume of air flow: use nebulized adrenaline 1:1000 (5mL); if poor response,
repeat, and take to ITU.
o Failure to improve with steroids / nebulized adrenaline should prompt the consideration of Bacterial tracheitis.
§ This is defined by the presence of thick mucopurulent exudate (typically secondary Staph. Aureus infection) and tracheal
mucosal sloughing that is not cleared by coughing, and risks occluding the airway.
• Pronounced tracheal tenderness may be present
• Rx: benefits from early intubation, allowing pulmonary toilet and improved ventilation. Treat with
cefotaxime + flucloxacillin
• Rx: Give antibiotics, humidified O2, + nebulized adrenaline (5mL 1:1000, may buy time in severe disease needing ventilating), and
dexamethasone 150μg/kg PO stat or budesonide 2mg nebulized.
Acute epiglottitis is rarer than croup but mortality is high: 1% if respiratory distress. Often, history is short, septicaemia is rapid, and cough is
absent.
• Signs: sore throat (100%), fever (88%), dyspnoea (78%), voice change (75%), dysphagia (76%), tender anterior neck ±cellulitis (27%),
hoarseness (21%), pharyngitis (20%), anterior neck nodes (9%), drooling (head forward tongue out), prefers to sit, refusal to swallow,
dysphagia.
Michael Grant
• Typical cause: Haemophilus (vaccination has reduced prevalence); Strep pyogenes
• Managing suspected epiglottitis: Stay calm! Avoid examining the throat or upset patient as may precipitate obstruction.
• Summon the most experienced anaesthetist; Ask them to make the diagnosis by laryngoscopy.
• If epiglottitis (a cherry-red, swollen epiglottis): electively intubate before obstruction occurs
• The cause is usually Haemophilus influenzae type b, treat with a 3rd generation cephalosporin (eg cefotaxime, 25–50mg/kg/8h IV).
Laryngomalacia This is the main congenital anomaly of the larynx (~60%) appearing within hours of birth (or up to a few months). Immature
and floppy aryepiglottic folds and glottis increase laryngeal collapse in inspiration.
• Stridor may be most noticeable in certain positions, sleep, or if excited/upset.
• In 85%, no Rx is needed and symptoms usually improve by 2 yrs old
o Try surgery if severe issues with concurrent infection or feding
• Association with gastro-oesophageal reflux disease
Laryngeal paralysis accounts for 15–20% of all those with congenital laryngeal anomalies.
• Cause: Often unknown, but might be from vagal stretching at delivery.
• Unilateral: May manifest during the 1st few weeks of life with a hoarse, breathy cry that is aggravated by agitation, feeding diffculties ±
aspiration.
o Rx: Supportive; most recover by 2–3 years.
• Bilateral: Inspiratory stridor at rest that worsens upon agitation ± significant respiratory distress.
o Rx: may need urgent airway intervention (intubation, tracheotomy) ± surgery
Diphtheria is caused by the toxin of Corynebacterium diphtheriae. It usually starts with tonsillitis ± a false membrane over the fauces
(arches leading to pharynx).
• The toxin may cause polyneuritis, often starting with cranial nerves.
• Shock may occur from myocarditis, toxaemia, or cardiac conducting system involvement
o If there is tachycardia out of proportion to fever, suspect toxin-induced myocarditis (do frequent ECGs).
• Other signs: dysphagia; muffled voice; bronchopneumonia; airway obstruction preceded by a brassy cough (laryngotracheal diphtheria);
nasal discharge with an excoriated upper lip (nasal diphtheria).
• Motor palatal paralysis also occurs causing fluids to escape from the nose on swallowing.
• Diagnosis: Swab culture of material below pseudomembrane for PCR
• Treatment: Diphtheria antitoxin: 10,000–30,000U IM and erythromycin
o Give contacts 7 days’ erythromycin syrup: <2yrs old 125mg/6h PO (500mg per 6h if >8yrs) before swab results are known.
o Risk if: Homeless/refugee; aged 3–6yrs old; in ‘asocial’ families.
LRTI
If severely ill, think of staphs, streps, TB, and HIV.
In chronic cough think of:
• Pertussis
• TB
• Foreign body
• Asthma.
Acute bronchiolitis is the big lung infection in infants;

• Signs: coryza precedes cough, low fever, tachypnoea, wheeze, inspiratory crackles, apnoea, intercostal recession ± cyanosis.
• Typical cause: Winter respiratory syncytial virus (RSV; single- stranded RNA).
o Others: Mycoplasma, parainfluenza, adenoviruses. Those <6 months old are most at risk.
• Signs prompting admission: Poor feeding, >50 breaths/min, apnoea, dehydration, rib recession, patient or parental exhaustion.
• Tests: PCR/fluorescent antibody tests rarely contribute
• If severe: CXR (hyperinflation); blood gases/SpO2; FBC.425
• Rx: O2 (stop when SpO2 92%); nasogastric feeds.
o 5% need ventilating
o Don’t use bronchiodilators and steroids routinely.
o Consider prevention with palivizumab (RSV protein F antibody) in those concurrent chest disease, chronic lung disease or
history of prematurity
Pneumonia
• Signs: T°, malaise, poor feeding, tachypnoea, cyanosis, grunting, rib recession;
o Older children may have typical lobar signs (pleural pain, crackles, bronchial breathing)
• Causes: Pneumococcus, Mycoplasma (hence erythromycin), Haemophilus, Staphs, TB, viral.
• Admit: if SpO2 <90%; <6months; signs of respiratory distress; suspected MRSA; or concerns about observation at home.
• Tests: Consider CXR/FBC/blood and sputum cultures. Detection of influenza / respiratory viruses decreases likelihood of needing
antibiotics.
o Viral LRTI is more common than bacterial infection in children <2, so those with mild symptoms can typically be discharged without
antibiotics )
• Rx: Amoxicillin is 1st-line; alternatives: co-amoxiclav, cefaclor, erythromycin, azithromycin, clarithromycin.
o HIV+ve/multi-drug resistance: Ask lab (cefepime may work).
• Monitor: TPR; SpO2.
TB
Michael Grant
• Suspect if: overseas contacts, HIV+ve; odd CXR Signs: Anorexia, low fever, failure to thrive, malaise. Cough is common (may be absent).
• Diagnosis: Tuberculin tests; culture + Ziehl–Neelsen stain of sputa (≈3) and gastric aspirate.
• CXR: consolidation, cavities, Miliary spread (fine white dots on CXR) is rare but grave.
• Rx: Get expert help. 6-month supervised plan: RIP (rifampicin, isoniazid, pyrazinamide)
o Monitor U&E & LFT before and during treatment. Stop rifampicin if bilirubin raised (hepatitis).
o Isoniazid may cause neuropathy (give concurrent pyridoxine)
o Prophylaxis: If TB-with-HIV, co-trimoxazole prophylaxis is likely to be needed (pneumocystosis jiro.)
Whooping cough (Bordetella pertussis)

• Signs: Apnoea; bouts of coughing ending with vomiting (± cyanosis) worse at night or after feeds.
• Whoops (not always heard) are caused by inspiration against a closed glottis.
• Co-infection with RSV (above) is common.
• Peak age: Infants, the illness is often mild but severe in the very young (may be fatal).
• Investigations: PCR; culture is unsatisfactory. Fluorescent antibody tests of nasopharyngeal aspirates is specific but insensitive.
o Absolute lymphocytosis is common (may be very high).
• Incubation: 10–14 days.
• Complications: Prolonged illness (the ‘100-day cough’). Coughing bouts may cause petechiae (eg on cheek), conjunctival, retinal &
CNS bleeds, apnoea, inguinal hernias ± lingual frenulum tears.
o Deaths may occur (esp. in infants), as may late bronchiectasis
• Rx: Erythromycin is often used in those likely to expose infants to the disease (benefit unproven).
o Admit if <6 months old (risk of apnoea). May need ventilating and even ECMO (extracorporeal membrane oxygenation (ECMO) is a
technique of providing both cardiac and respiratory support to persons
whose heart and lungs are unable to provide an adequate amount of
gas exchange to sustain life).
o Vaccine: not always effective. 30% of severe infections are via a fully
vaccinated sibling.
Cystic fibrosis is one of the commonest autosomal recessive diseases (~1:2000;

~1:22 of Caucasians are carriers); it reflects mutations in the cystic fibrosis
transmembrane conductance regulator gene (CFTR) on chromosome 7, which
codes for a cyclic AMP-regulated sodium/chloride channel.
• There is a broad range of severity of exocrine gland function, leading to
meconium ileus in neonates (and its equivalent in children), lung disease
akin to bronchiectasis, pancreatic exocrine insufficiency and a raised Na+
sweat level—depending in part on the type of mutation.
• Preimplantation analysis after in vitro fertilization possible
• Diagnosis:
o 10% present with meconium ileus as neonates.
o Most present later with recurrent pneumonia (±clubbing), steatorrhoea
or slow growth.
o Sweat test: Sweat Cl– <40mmol/L is normal; >60mmol/L supports the
diagnosis. The test is capricious, so find an experienced worker.
§ Sweat is collected onto filter paper fixed to the forearm
§ Pitfalls of the sweat test: False-positive sweat test: May be seen in
atopic eczema, hypothyroidism, dehydration, malnutrition. On the first day of life, up to 25% of normal newborns show a sweat
sodium concentration >65mmol/L
o Other tests: IRT/DNA; CXR: shadowing suggestive of bronchiectasis (esp. upper lobes); malabsorption screen; glucose tolerance
test; spirometry; sputum culture.
§ Mycobacterial colonization affects up to 20%; consider if rapid deterioration.
o Neonatal screening using immunoreactive trypsin (IRT): Dried blood samples at 3 days old, after consent.
§ If IRT raised; DNA analysis is done on the same sample—looking for ≥30 mutations (gives 85% coverage).
§ This is routine on the newborn blood spot screening (Guthrie card)
• Genetic counselling:. Long survival depends on antibiotics and good nutrition
• Respiratory problems (neutrophilic airway inflammation): Start physiotherapy (≈3/day) at diagnosis. Teach parents percussion + postur-
al drainage. Older children learn forced expiration techniques.
o Organisms are usually Staph aureus, H. influenzae (rarer), and Strep pneumoniae in younger children.
o Eventually >90% are chronically infected with Pseudomonas aeruginosa. Burkholderia cepacia (Ps cepacia) is associated with rapid
progression of lung disease
• Treat acute infection after sputum culture using higher doses, and for longer than normal.
• If very ill, ticarcillin, 80mg/kg (max 3.2g)/6–8h IV (if aged >1 month) + gentamicin, or ceftazidime (50mg/kg/8h IV) alone may be needed
‘blind’.
o Nebulizing ticarcillin and tobramycin at home does prevent admissions.
o Colistin and meropenem are reserved for panresistant P. aeruginosa
o In reversible airway obstruction, give inhaled salbutamol.
o Look for Aspergillus in sputum
o Ensure full vaccination (+pneumococcal)
o Methicillin- resistant Staph aureus is unlikely to do great harm to the lungs.
o Gastrointestinal problems & nutrition: Energy needs rise by ~130% (chronic lung inflammation).
Michael Grant
§ Most have steatorrhoea from pancreatic malabsorption and need enzymes: Pancrex V® powder mixed with tepid food for
infants— and Pancrex V Forte® for older children, ≤10 tabs/meal—to give regular, formed, non-greasy bowel actions.
§ Most older children have enzymes in microspheres (eg Creon®) so fewer tablets are needed.
§ Omeprazole (or cimetidine, or ranitidine) helps absorption by higher duodenal pH
§ If all this controls steatorrhoea, a low-fat diet is not needed, but vitamins are still needed (A & D, eg as Abidec® 0.6mL/24h PO for
infants or as multivitamin capsules 2/24h PO for older children). Diet should be high calorie/high protein.
§ Fine-bore nasogastric feeding is needed only if weight cannot otherwise be maintained. 
§ GI obstruction if Creon® is omitted: admit urgently to a specialist centre for medical treatment (avoid laparotomy unless
perforation imminent)
o Impaired glucose tolerance: Risk rises with age, Insulin may be needed; optimize diet, then optimize dose, not vice versa. Only try oral
hypoglycaemics if nutrition is satisfactory.
o Psychological help: Parents and children need expert counselling—and transitional clinics with multidisciplinary teams when
transferring from paediatric to adult services. The Cystic Fibrosis Research Trust can help here.
o Meconium ileus
§ Presents with failure to pass stool or vomiting in the 1st 48hrs of life. Distended loops of bowel are seen through the
abdominal wall. A plug of meconium may show as a firm mass in one such loop. In causes other than CF, lateral decubitus films
show fluid levels. Tiny bubbles may be seen in the meconium (‘inspissated’).
§ Options: • Nasogastric tube drainage • Washout enemas • Excision of the gut containing most meconium. 
• Prognosis
o Death may be from pneumonia or cor pulmonale. Most survive to adulthood (median survival is >31yrs, and possibly >50yrs for
those born after 2000). 5-year survivorship models take account of forced expiratory volume in 1sec (% of expected), gender, weight-
for-age z score, pancreatic function, plasma glucose, Staph aureus and Burkholderia cepacia infection, and number of acute lung
exacerbations/yr.  
• Newer options
o Recombinant human deoxyribonuclease (rhDNase) has been shown to improve lung function and reduce the number of pulmonary
exacerbations—and, over the long term, the natural (untreated) increase in elastase activities and interleukin-8 concentrations can be
curtailed.  
o Lung transplantation (heart + lung, or double lung) is getting safer; consider in those who are deteriorating (FEV1 <30% of
expected) despite maximum therapy, provided nutrition is good, and there is no TB or aspergillus. Good results are limited by donor
availability 
o Gene therapy aims to deliver normal copies of the cystic fibrosis gene into patients, so allowing them to make CFTR protein. Viral
vectors and liposomes have been used to get the gene into cells.
Asthma in children >2yrs old in the developed world, is the leading chronic illness in children. It implies reversible airway obstruction (peak
flows vary by >20%) ± wheeze, dyspnoea, or cough
• Prevalence increased in: Low birthweight; family history; bottle fed; atopy; pollution; past lung disease; paracetamol use.
• Genetics: Asthma susceptibility genes are described (eg ADAM33).
• Triggers: Pollen; dust; feathers; fur; exercise; viruses; chemicals; smoke; traffic
• DDx: Foreign body; pertussis; croup; pneumonia/TB (do CXR!); hyperventilation; aspiration; cystic fibrosis (wet cough, starting at birth,
failure to thrive)
• Severe asthma: (Not always distressed)
o Too breathless to speak/feed; >40 breaths/ min <5y >30 if 5–12y, ≥25 if >12y; pulse >140 beats/min <5y; >125 if 5–12y, ≥110 if
>12y; pulse ≥120 (or >130 if <5yrs); peak flow ≤1⁄2 predicted 5–12yrs, 33–35% if >12yrs
o Life-threatening if: Peak flow <1⁄3 of predicted
§ Cyanosis
§ Silent chest
§ Fatigue or exhaustion
§ Confused/agitation/reduced consciousness/coma.
• Treatment
o Avoid triggers
o Check inhaler technique: metered dose inhaler (MDI) + Spacer below the age
of ~8. Then powders which need high inspiratory flow (≥60L/min) in the
starting phase; or propellant systems (need constant flow, 40–90L/min) with
long duration; teaching both at once doesn’t work!
o Address fears
o Have a written self-management plan: Give a peak flow meter
• Treatment steps:
1 Occasional beta-agonists via pMDI.
If needed >3≈/week, add step 2 (also if >5 yrs and many
exacerbations, or asthma wakes from sleep >once/wk).
2 Add inhaled steroid, e.g. beclometasone (Clenil Modulite)
If <5 y.o., consider leukotriene antagonist (montelukast)
3 Review diagnosis; check inhaler use/concordance; eliminate
triggers; monitor height.
<2 years refer to specialist
If <5yrs: Add 1 evening dose of montelukast 4mg as a
mouth-dissolving capsule
If >5yrs: Add inhaled salmeterol 50μg/12h (long-acting
beta-agonist); monitor closely; stop if of no help.
Michael Grant
If symptomatic increase inhaled steroid and try montelukast 5mg or theophylline, e.g. Slo-Phyllin® 125–250mg/12h PO if 6–12yrs.
If problems remain, add in step 4.
4 >5yrs:nhaled steroid (Clenil® 400μg/12h) – if no response refer
<5 Refer to specialist (± CXR).
5 Add oral prednisolone (if >5yrs) at lowest dose that works; check: growth.
Dose examples:
• Beta-agonists: Salbutamol 100μg via MDI as needed, with spacer.
o Admit if an attack is not controlled by 2–4 puffs/20–30min (max 10 pu s).
• Anti-muscarinics: Ipratropium 20μg/8h by aerosol if ~6yrs old; 40μg/8h if older.
Treating severe asthma Calmness helps. Give these treatments if life-

threatening signs are present, or if not improving 15–30min after
starts.
Before discharge ensure:

• Peak flow >75% of predicted
• Good inhaler technique – get patient to show you
• Is stable on discharge regimen
• Taking inhaled steroids + oral prednisolone
• Written management plan
• Follow-up: GP in 1 week; in clinic in ~4 weeks.
• Prevention: Reduce triggers; A Mediterranean diet rich in fruit (esp. if eaten by the mother in pregnancy) may help.
Sick child
The Spectrum of Clinical Conditions
• Shock
• Anaphylaxis
Michael Grant
• Acute severe asthma
• Choking
Michael Grant
• Seizure
• Hypoglycaemia
•
Michael Grant
• Meningococcal septicaemia
• Burns
o For Infants < 12 months: Weight
(kg) = (age in months + 9)/2
o For Children aged 1-5 years:
Weight (kg) = 2 x (age in years + 5)
o For Children aged 5-14 years:
Weight (kg) = 4 x age in years.
Michael Grant
Paediatric Surgery
• Inguinal hernia
• Hydrocele
• Undescended testes
• Hypospadias
• Torsion of testis
• Hirschsprung disease
• Necrotising enterocolitis
• Gastroschisis
• Exomphalos (omphalocele)
• Pyloric stenosis
• Congenital diaphragmatic hernia
• Oesophageal atresia
• Tracheo-oesophageal fistula
Inguinal hernias These are due to a patent processus vaginalis (the passage which ushers the descending testicle into the scrotum). They
present as a bulge lateral to the pubic tubercle, eg during crying. In one series (n=6361), : ≈5:1; there were 59% right, 29% left, and 12%
bilateral hernias (almost all indirect), with a hydrocele in 19%.240 Incarceration occurred in 12%. Most sur- geons aim to repair these promptly
(laparoscopic repair is possible)241 to avoid incarceration. Hydroceles are hard to distinguish from
incarceration—explore if in doubt.
Hydroceles in infancy A processus vaginalis patent at birth, and allowing only fluid from the peritoneal cavity to
pass down it, generally closes during the first year of life—so no action is usually needed. If it persists until the
age of 2 it may need surgical exploration.242 If the fluid-filled sac is adjacent to the spermatic cord, it is called
an encysted hydrocele or a spermatic cord cyst. If the proximal opening of the processus vaginalis is wide, a true
inguinal hernia is formed, and action is always required.243
Imperforate anus Covers a variety of anorectal abnormalities. Babies may have an associated fistula starting in
the rectum. Most girls have a posterior fourchette fistula; boys have a posterior urethral fistula (may pass
meconium
Paediatrics
in urine). Absence of perineal fistula in boys indicates communication with the urethra (so colostomy
may be required). Do GU imaging to show commonly associated GU abnormalities. Posterior sagittal
anorectoplasty is possible.244 Babies with Trisomy 21 commonly have imperforate anus without
fistula. Mid-gut malrotations Bilious neonatal vomiting merits immediate surgical referral (pass
NGT).245 Absent attachment of the small intestine mesentery can cause mid-gut volvulus or
obstruction of the third part of the duodenum by fibrotic bands. Presentation may be late; passage of
blood per rectum heralds mid-gut necrosis—and is an indication for emergency surgical
decompression. Acute gastric volvulus causes non-bilious vomiting, epigastric distention and signs of
pain, and is often associated with abnormalities of adjacent organs. There may also be feeding di
culty. Anterior fixation of the stomach to the anterior abdominal wall may be needed after upper GI
imaging.
Pre-auricular tags are markers of GU problems; consider GU ultrasound.254

Undescended testis—cryptorchidism (2–3% of neonates, 15–30% of prems; bilateral in 25% of these).
On cold days retractile testes may hide in the inguinal pouch, eluding all but the most careful
examination (eg while squatting, or with legs crossed, or in a warm bath they may be ‘milked’ down
into position). These retractile testes need no surgery. If truly undescended it will lie along the path of
descent from the abdominal cavity. Early (eg at 1 year) fixing within the
scrotum (orchidopexy) may prevent infertility and reduces later neopla-
sia (untreated, risk is >5-fold). Intranasal gonadotrophin-releasing
hormone is unreliable. NB: biopsy may cause later malignancy.255
Posterior urethral valves present with oligohydramnios or absent or
feeble voiding (± uraemia and a palpable bladder). Micturating
cystogram: posterior urethral dilatation. Laser resection is possible.
Antenatal diagnosis: ultrasound scan (USS) shows GU dilatation.
Hypospadias In the male fetus, urethral tubularisation occurs in a

proximal to distal direction under the influence of fetal testosterone.
Failure to complete this process leaves the urethral opening proximal to
the normal meatus on the glans and this is termed hypospadias (Fig.
19.10). This is a common congenital anomaly, affecting about 1 in every
200 boys. Recent studies suggest that the incidence is increasing.
Hypospadias consists of:
• Aventralurethralmeatus–inmostcasesthe urethra opens on or adjacent
to the glans penis, but in severe cases the opening may be on the penile
shaft or in the perineum (Fig. 19.11)
Michael Grant
• A hooded dorsal foreskin – the foreskin has failed to fuse ventrally
• Chordee – a ventral curvature of the shaft of the penis, most apparent on erection. This is only marked in the more severe forms of
hypospadias (Fig. 19.12).
Glanular hypospadias may be a solely cosmetic concern, but more proximal varieties may cause functional problems including an inability to
micturate in a normal direction and erectile deformity. With more severe varieties of hypospadias, additional genitourinary anomalies should
be excluded and sometimes it is necessary to consider disorders of sexual differentiation.
Surgery
Correction is often undertaken before 2 years of age, often as a single-stage operation. The aims of surgery are to produce:
• A terminal urethral meatus so that the boy can micturate in a normal standing position like his peers
• A straight erection • A penis that looks normal.
Infants with hypospadias must not be circumcised, as the foreskin is often needed for later reconstructive surgery.
Torsion of the testis

Testicular torsion is most common in adolescents but may occur at any age, including the perinatal period (Fig. 19.7). The pain is not always
centred on the scrotum but may be in the groin or lower abdomen.
Atypical presentation is not unusual and the testes must always be examined whenever
a boy or young man presents with inguinal or lower abdominal pain of sudden onset
(see Case History 19.1). There may be a history of previous self-limiting episodes.
Torsion of the testis must be relieved within 6–12 h of the onset of symptoms for there
to be a good chance of testicular viability. Surgical exploration is mandatory unless
torsion can be excluded. If torsion is confirmed, fixation of the contralateral testis is
essential because there may be an anatomical predisposition to torsion, for example
the ‘bell clapper’ testis, where the testis is not anchored properly. An undescended
testis is at increased risk of torsion and at increased risk of delayed diagnosis. It may
also be confused with an incarcerated hernia. Expert Doppler ultrasound looking at
flow in the testicular blood vessels may allow torsion of the testis to be differentiated
from epididymitis, but should not be used to diagnose torsion as only early surgical
correction may salvage the testis. If there is any doubt about the cause of a painful
scrotum, surgery should be performed.
Torsion of testicular appendage

A hydatid of Morgagni is an embryological remnant found on the upper pole of the testis. Torsion of this appendage characteristically affects
boys just prior to puberty. This may be because of rapid enlargement of the hydatid in response to gonadotrophins. The pain may increase
over 1 or 2 days and occasionally the torted hydatid can be seen or felt (the blue dot sign). Surgical exploration and excision of the appendage
leads to rapid resolution of the problem.
Some congenital/genetic disorders
Horseshoe kidney (crossed-fused kidney): Symp- toms: Silent or obstructive uropathy ± renal infec- tions. USS diagnosis: kidneys ‘too medial’;
lower pole ‘too long’; anterior-rotated pelvis; poorly defined inferior border; isthmus often invisible.257 Autosomal recessive polycystic kidney
disease and congenital hepatic fibrosis (ARPKD-CHF) is characterized by cystic dilations of the collecting ducts associated with biliary
dysgenesis and perio- portal fibrosis. PKHD1 is the responsible gene (on short arm of chromosome 6). Typically diagnosed by prenatal
ultrasound (hyperechogenic, large kidneys ± oligohydramnios). Af- fects 1 in 40,000. Severe cases lead to pulmonary hypoplasia. 80% of those
infants that survive the 1st month of live will live to 15. A ected children tend to develop hyponatraemia, hypertension and renal failure. The
histology of the liver is always abnormal. Survivors risk UTIs and portal hypertension with hae- matemesis.258
Ectopic kidney: May be seen on US scan (eg pelvic mass) or renal scintigraphy.
Associations: anorectal abnormalities, UTIs; calculi.259
Renal agenesis causes oligohydramnios, Potter’s facies + death if bilateral. VACTERL association (vertebral, anal, cardiac, tracheoesophageal,
renal and limb anomalies). Diagnosis: prenatal US scan.260 Patent urachus: Urine leaks from the umbilicus. Image: excretory urogram. Bladder
extrophy: Pubic separation with bladder exposure.261
Double ureter: Associations: ureterocele, UTI, pyelonephritis; may be symptomless. Renal tubular defects: (eg renal glycosuria, cystinuria, or
diabetes insipidus). In
renal tubular acidosis conservation of fixed base is impaired, causing metabolic acidosis + alkaline urine. Symptoms: Failure to thrive; polyuria;
polydipsia.
Anterior abdominal wall defects

Gastroschisis (Fig 1): A paraumbilical defect with evisceration (extrusion of vis- cera) of abdominal contents. Incidence: ~1.6:10,000; rising
(especially in babies of young mothers246 or fathers247—or, in mul- tips, if there has been a new father for this pregnancy (hence the idea
that maternal immune factors play a role)).248 Another hypothesis is that it is caused by a vascular event related to cocaine use. Corrective
surgery has a good outcome in 90% (so deliver where there are good paediatric surgical facilities, if diagnosed pre- natally—aim to diagnose at
ultrasound).249,250 Manage as per diaphragmatic hernia: aim to have no air in the gut, so intubate and paralyse at birth if in respiratory
distress.
Exomphalos (omphalocele) (Fig 2): Ventral defects of the umbilical ring with herniation of abdominal viscera (which are covered in peritoneum)
are common and often associated with malformations such as chromosomal, cardiac, or genitourinary abnormalities. A small exomphalos may
contain only a Meck- el’s diverticulum while a large defect may contain the stomach, liver and bladder. The growth of viscera outside the
abdominal cavity may lead it to be pro- portionately small making reduction of visera more di cult. Antenatal: Most are identified by routine fetal
anomaly scans (AFP too).252 Postnatal management: • Protect herniated viscera • Maintain fluids and electrolytes. • Prevent hypothermia,
Michael Grant
gastric decompression, prevention of sepsis, and maintenance of cardiorespiratory stability. • Primary or staged closure may be used to repair
the defect. With big defects, closure can cause respiratory insu ciency, haemodynamic compromise, dehiscence, and inability to close the
abdomen and subsequent death.252 After pulmonary and other comorbidities have stabi- lized, the omphalocele may gradually be reduced
with a loose elastic bandage, with delayed closure at 6 to 12 months old.252,253
Pyloric stenosis
• More common in boys and those with a maternal family history
• Signs are: visible gastric peristalsis, palpable abdominal mass on test feed and possible dehydration
• Associated with hyponatraemia, hypokalaemia and hypochloraemic alkalosis
• Diagnosis may be confirmed by ultrasound • Treated by surgery after rehydration and
correction of electrolyte imbalance.
Diagnosis
Unless immediate fluid resuscitation is required, a test feed is performed. The baby is given a milk feed, which will calm the hungry infant,
allowing examination. Gastric peristalsis may be seen as a wave moving from left to right across the abdomen (Fig. 13.3a). The pyloric mass,
which feels like an olive, is usually palpable in the right upper quadrant (Fig. 13.3b). If the stomach is overdistended with air, it will need to be
emptied by a nasogastric tube to allow palpation. Ultrasound examination is helpful (Fig. 13.3c) if the diagnosis is in doubt.
Management
The initial priority is to correct any fluid and electrolyte disturbance with intravenous fluids (0.45% saline and 5% dextrose with potassium
supplements). Once hydration and acid–base and electrolytes are normal, definitive treatment by pyloromyotomy can be performed. This
involves division of the hypertrophied muscle down to, but not including, the mucosa (Fig. 13.3d). The operation can be performed either as an
open procedure via a periumbilical incision or laparoscopically. Postoperatively, the child can usually be fed within 6 h and discharged within 2
days of surgery.
Congenital diaphragmatic hernia (CDH)

This occurs in about 1 in 4000 births. Many are now diagnosed on antenatal ultrasound screening. In the
newborn period, it usually presents with failure to respond to resuscitation or as respiratory distress. In most
cases, there is a left-sided herniation of abdominal contents through the posterolateral foramen of the
diaphragm. The apex beat and heart sounds will then be displaced to the right side of the chest, with poor air
entry in the left chest. Vigorous resuscitation may cause a pneumothorax in the normal lung, thereby aggravat-
ing the situation. The diagnosis is confirmed by X-ray of the chest and abdomen (Fig. 10.21). Once the diagnosis
is suspected, a large nasogastric tube is passed and suction is applied to prevent distension of the intrathoracic
bowel. After stabilisation, the diaphragmatic hernia is repaired surgically, but in most infants with this condition
the main problem is pulmonary hypoplasia – where compression by the herniated viscera throughout
pregnancy has prevented development of the lung in the fetus. If the lungs are hypoplastic, mortality is high.
A developmental defect in the diaphragm allowing herniation of abdominal contents into the chest. Leads to
impaired lung development (pulmonary hypoplasia and pulmonary hypertension). Incidence: 1:3700.236
Diagnosis: Prenatal: ultrasound; postnatal: CXR. Signs: Di cult resuscitation at birth; respiratory distress; bowel
sounds in one hemithorax (usually left so heart is best heard on the right). pH <7.3 and cyanosis augur badly (
lung hypoplasia).237 Associations: other malformations (neural tube in 50%); trisomy 18; chromosome
deletions eg at 15q2, Pierre Robin (p138).238 Treatment: •Prenatal: Fetal surgery is not usually practical or available (tracheal obstruction may
be tried: it encourages lung growth, so pushing out other viscera)—but premature birth may be caused.239 •Post- natal: Insert a large-bore
nasogastric tube when diagnosis suspected: at birth if prenatal diagnosis. The aim is to keep all air out of the gut. Facemask ventilation is
contraindicated (so immediately intubate, ventilate, and paralyse, with minimal pressures). Get surgery in an appropriate centre.
Hirschsprung’s disease Occurs in 1 in 5000 births.232 Congenital absence of ganglia in a segment of colon (or in the rare ‘long-segment’
disease, can be all the way up to the stomach) leading to functional GI obstruction, constipation and megacolon. Faeces may be felt per
abdomen, and PR exam may reveal tight anal sphincter and explosive discharge of stool and gas. : ≈ 3:1. Com- plications: GI perforation,
bleeding, ulcers, enterocolitis (may be life-threatening). Short-gut syndrome after surgery. Tests: Diagnosis through rectal suction biopsy of
the aganglionic section, staining for acetylcholinesterase- positive nerve excess, is most accurate.233 Excision of the aganglionic segment is
needed ± colostomy.
Oesophageal atresia (OA) + Tracheo-oesophageal fistula (TOF) A spectrum of abnormalities with OA plus a distal TOF being the most
common (86%). Iso- lated OA (7%) and TOF without OA (4%) can also occur.234 Prenatal signs: Poly- hydramnios; small stomach. Postnatal:
Cough, airway obstruction, secretions, blowing bubbles, distended abdomen, cyanosis, aspiration. : Inability to pass a catheter into the
stomach; X-rays show it coiled in the oesophagus. Avoid contrast imaging. : Stop feeding, suck out oesophageal pouch. Primary surgical
repair is possible in the majority of cases.235 50% have other anomalies.
E) Practical Procedures (see Logbook)

• Examine a newborn baby
Listen and observe

Assess overall appearance. Note general tone, sleepiness and
rousability. Observe general condition, proportions and maturity.
Look carefully for evidence of jaundice (preferably in bright, natural
light). Note whether there are any birthmarks, rashes or other skin
abnormalities.
Listen to the baby's cry and note its sound.
Weigh the baby and plot this reading on its growth chart
Michael Grant
Perform a systematic 'head to toes' examination This should be done carefully and in good light to detect
abnormalities:
◦ Head:
Shape, presence of fontanelle and whether normal, sunken (dehydration) or bulging (ICP)
Measure and record head circumference on the growth chart.
Assess facial appearance and eye position.
Look for any asymmetry or abnormality of facial form.
◦ Eyes:
Establish that they are of normal shape and appearance.
Check for presence of red reflex.
Look for obvious cataracts or signs of ophthalmic infection.
◦ Ears:
Note shape and size.
Establish whether they are set at the normal level or 'low-set'.
Check patency of external auditory meatus.
◦ Mouth:
Check the colour of the mucous membrane; observe the palate.
Check suckling reflex by inserting a clean little finger gently inside the baby's mouth.
◦ Arms and hands:
Establish whether they are of normal shape and moving normally.
Look for evidence of traction birth injury (eg, Erb's palsy) by checking the neck, shoulders and
clavicles.
Count the fingers and observe their shape; check for any evidence of clinodactyly (incurving of
fingers).
Check palmar creases - whether they are multiple or single. A single palmar crease may be normal,
but can be a sign of Down's syndrome (trisomy 21).
◦ Peripheral pulses:
Check brachial, radial and femoral pulses for rate, rhythm and volume.
A hyperdynamic pulse may suggest patent ductus arteriosus.
A weak pulse may occur with a congenital cardiac anomaly (impairing cardiac output and in conjunction with other signs from the
examination).
Check for radio-femoral delay (aortic coarctation).
◦ Heart:
Check the cardiac position by palpation and feel for any thrill or heave.
Listen to the heart sounds carefully and for any added sounds or murmurs (although be aware that
Suspected abnormalities require further examination (and often more expert opinion and investigation).
◦ Lungs:
Watch the respiratory pattern, rate and depth for a few seconds.
Look for any evidence of intercostal recession.
Listen for stridor.
Auscultate lung fields for added sounds.
◦ Abdomen:
Look at abdominal girth and shape.
Carefully check the umbilical stump for infection or surrounding hernia.
Palpate gently for organs, masses or herniae.
It is common to be able to feel the liver and/or spleen in healthy newborns.
Check the external genitalia carefully (see the separate article on Ambiguous Genitalia).
Palpate for testes in boys.
Inspect the anus (establish whether meconium been passed).
◦ Back:
Look carefully at the skin over the back and at the spinal curvature/symmetry.
Observe whether there is any evidence of spina bifida occulta or pilonidal sinus hidden by
flesh creases or dimples.
Palpate the spine gently.
◦ Hips:
Specifically test for congenital
dislocation of the hip (aka congenital hip
dysplasia) using a combination of Barlow and
Ortolani manoeuvres
◦ Legs:
Watch movements at each joint.
Check for any evidence of talipes
equinovarus.
Count toes and check their shape.
◦ CNS:
Observe tone, behaviour, movements
and posture.
Michael Grant
Elicit newborn reflexes only if there is cause for concern.
Further examination should be conducted as necessary according to any abnormalities that are detected, or suspicions of undetected illness in
the baby.
• Write up a paediatric drug Kardex
• Write up a fluid balance chart
Routes for administration: Oral, naso-gastric, intravenous, intraosseous
Resusitation/Fluid bolus:
• Indication: Shocked or dehydrated (look for signs of reduced blood pressure, perfusion, sunken fontenelle, etc.)
• Given as Normal (0.9%) Slane
• Rate: STAT
• Volume: 20mls/kg
o Exception of DKA or trauma; 10mls/kg
Routine Maintenance fluid:

• Given as isotonic fluid, specifically Normal saline/5% dextrose
• Total amount should be divided by 24hours to give rate in ml/hr
• Volume:
o First 10kg: 100ml/kg/day
o 10-20kg: 50ml/kg/day
o For every kg over 20: 20ml/kg/day
OR
o 4:2:1 rule:
st
§ 4ml/kg/hr for 1 10kg
nd
§ 2ml/kg/hr for 2 10kg
§ 1ml/kg/hr for every kg over 20
• As the bags are manufactured in 500ml and 1L bags, that is what is written up – using the rate to ditate duration of infusion
Replacement and redistribution/Deficit:

• Total fluids: routine maintenance + deficit/replacement fluid
• Deficit:
o % dehydration X weight X 10 = deficit in ml
o This should be replaced over 24-48 hours
§ 24 hours in gastroenteritis
§ 48 hours in DKA
• The history and examination are used to assess the degree of dehydration as:
o No clinically detectable dehydration (usually <5% loss of body weight)
o Clinical dehydration (usually 5–10%)
o Shock (usually >10%)
Additives:
• Routine maintenance prescription should not occur until U&E results are back
o Repeated at least every 24hrs
• Daily K+ for children is 2mmol/kg/day
Michael Grant
• Measure and plot growth parameters
Weight:
• Babies: no clothing or nappy
• Older children: light clothes only
Length and height:

• Under 2 years: use and length board
• Over 2 years: Use stadiometer
Head circumference:
• Measure where largest and take the average of 3 measurements
Available charts:
• Neonatal and infact close monitoring (less than 32 weeks)
• 0-4 years
• School age 2-18 years
0-4 years chart:

• Babies born before 37 weeks are plotted on preterm section, and continue until EDD + 2 weeks
o After EDD + 2 weeks go to normal 0-1 chart and use adjusted age (actual age with an arrow backward showing weeks
preterm i.e. 40 weeks – minus gestational age)
§ Correction used for 1 year with 32-36 week babies
§ Correction used for 2 years with <32 week babies
• No centile lines between 0 and 2 weeks as babie will initially lose weight after birth and may not return to birth weight until 14 days
• Administer inhaler therapy - infants and children
• Urine collection and testing
• Measure Blood pressure in a 1 year old, 5 year old and a 10 year old
Michael Grant
Technique
When measured with a sphygmomanometer:
• Show the child that there is a balloon in the cuff and
demonstrate how it is blown up.
• Use largest cuff which fits comfortably, covering at least two-
thirds of the upper arm.
• The child must be relaxed and not crying.
• Systolic pressure is the easiest to determine in young children
and clinically the most useful
o Stethoscope in older children
o Doppler ultrasound in infants
• Diastolic pressure is when the sounds disappear. May not be
possible to discern in young children. Systolic pressure used in
clinical practice.
F) Laboratory Data Interpretation

• Anaemia. Abnormal WCC, platelet counts
• Common electrolyte/blood gas, biochemical disturbances including hyponatraemia
• CSF interpretation
• Urinalysis and urine microscopy/culture
• Stool microscopy/culture
• Radiological investigation e.g. chest X Ray
Michael Grant

Pediatrics - Michael Grant

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Pediatrics - Michael Grant

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Paediatrics

Introduce yourself – name / role

History of presenting complaint

Key paediatric questions

Ideas, Concerns & Expectations – often addressed to parents

Past medical history

Child Abuse and Neglect

Factors to consider in the presentation of a physical injury are:

Fabricated or induced illness:

Genetic conditions affecting the heart:

Transitional from fetal to baby circulation:

Cyanotic (right to left) conditions produce blue babies that can

o Maintaining the patency of the ductus arteriosus with a prostaglandin

Common mixing defects produce breathless and blue babies:

The features of an innocent murmur can be remembered as the four S’s:

Kawasaki disease (KD) is a systemic vasculitis and important

• Scalded skin syndrome

• Chickenpox (primary varicella zoster infection)

Abnormal motor development is a delay in the acquestion of motor

Learning difficulites can be described as:

Hearing impairment can be classifed as:

Abnormalities of vision may present with:

Squint (Strabismus) is a misallignment of the visual axes.

Premature sexual development

Precocious puberty can be categorsied according to the level

Abnormal head growth

MODY: maturity onset diabetes of the young

Inborn errors of metabolism

Newborn screening test to detect hypothyroidism and phenylketonuria

Emergency management of IEM involves:

Amino acid disorders:

PKU (phenylalanine ketonuria)

Disorders of carbohydrate metabolism:

Galactosaemia is a rare, recessively inherited disorder results from deficiency of

Principles of breastfeeding Positioning – CHIN:

Protein variations (for dietary protein intolerances)

Carbohydrate variations (for carbohydrate intolerances)

Fat variations (for fat absorption disorders)

Viscosity variations (for reflux)

High energy variations (for catch up growth)

Acute abdominal pain

Recurrent abdominal pain

o Irritable bowel syndrome

Diagnostic modalities in genetics range from:

Klinefelter syndrome is a chromosomal disorder causing a total of 47

Prader willi syndrome

DiGeorge syndrome (also know as velocardiogfacial or 22q11 syndrome)

Osteogenesis imperfecta is a group of disorders of collagen metabolism causing bone

Achondroplasia is caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). In

Immune thrombocytopenia was previously known as idiopathic thrombocytopenia, that is

Red cell disorders:

Genetic disorders of haemoglobin affect the structure of the compound

Sickle cell disease

Henoch-Schonlein purpura is an acute immune complex-mediated vasculitis. Most

Haemophilia A is a factor VIII deficiency that is an X-linked recessive

Haemophilia B has the same signs and symptoms as haemophilia A –

Respiratory infection is typically caused by viral infection:

Pertussis is a highly contagious respiratory infection caused

Joints and bones

Transient synovitis “irritable hip” is the most common cause of acute

Slipped upper femoral epiphysis is the displacement of the femoral head

Reactive arthritis most common form of arthritis in childhood. Usually follows a GI

Juvenile idiopathic arthritis (JIA) is the commonest chronic inflammatory joint

Osteomyelitis is an infection of the metaphysis of long bones. The most