Current Paediatrics (1996) 6, 269-271

© 1996 Pearson Professional Ltd

Self-assessment questions

H. Jones

Self-assessment questions for Paediatrics 2. What is the most likely diagnosis?

3. What is the treatment of choice?
Question 1
Question 2
This infant, born at term, required intubation and
ventilation soon after birth for cyanosis and respira-
tory distress. Pregnancy and labour had been 1. What abnormality is shown (Fig. 2)?
uneventful.
1. Name two radiological abnormalities (Fig. 1).

Fig. 2

2. Give four possible causes

3. What is the commonest mode of inheritance?

Question 3

This infant was referred to the paediatric out-patient

department with bowing of the legs. On examination
the anterior fontanelle was noted to be abnormally
wide. The X-ray of his knees is shown (Fig. 3).

Fig. 1

Huw Jones, Department of Child Health, University of Wales

College of Medicine, Heath Park, Cardiff CF4 4XN, Wales.
Correspondence and requests for offprints to HJ. Fig. 3

269
270 Current Paediatrics
1. What is the most likely diagnosis in this infant?
2. What biochemical investigations would confirm
the diagnosis?
3. What are the common causes of this condition?
Question 4
A 6-year-old girl presents at casualty in status epilepti-
cus. She has been generally unwell for 12 h with
increasing irritability, fever and vomiting. She has no
previous history of convulsions, her developmental
progress has been normal, she is fully immunized and
is on no medication. Facial oxygen only has been
given during transfer to hospital and on arrival you
are told she has been convulsing for 45 rain. On exam-
ination, she has symmetrical clonic movements of all
limbs. She is pyrexial (38.5°C), oxygen saturation is
94% and her BP is 90/60.
1. What should be your initial management?
2. State initial investigations.
3. Which anticonvulsant should be used as first-line
treatment?
4. Given the above presentation, what is the most
likely underlying condition?
Self-assessment answers for Paediatrics
Answer 1
1. Cystic enlargement of the left upper lobe.
Mediastinal shift towards the right.
2. Cystic adenomatoid malformation
3. Surgical removal of the affected lobe
Comment: Cystic adenomatoid malformation is a con-
genital abnormality usually affecting a single lobe of
one lung. Cystic enlargement of the affected lobe
causes compression of the normal ipsilateral lobe and
contralateral lung which may also be hypoplastic. The
cysts vary in size, large thin-walled cysts often being
confused with a diaphragmatic hernia. Other diag-
noses to consider are congenital lobar emphysema or a
cystic pulmonary sequestration. Around a quarter of
all cases are stillborn. Those liveborn are often preterm
with associated polyhydramnios and hydrops. Most
cases develop symptoms of acute respiratory distress
in the neonatal period but presentation may be delayed
in less severely affected cases. The diagnosis is con-
firmed radiologically with the demonstration of a cys-
tic mass and mediastinal shift. Surgical excision of the
Question 5
A 3-year-old boy presents with a 5 day history of
bloody diarrhoea and vague abdominal pain. His par-
ents note that he has become pale and more lethargic
over the past 24 h. He has had no other symptoms of
note, is on no medication and both his older siblings
are well. On examination he is tired and miserable, has
pale conjunctivae, mildly jaundiced sclerae and his
face looks oedematous. He is apyrexial, his heart rate
is 130/min and his BP is 100/75. His chest is clear,
heart sounds are normal and, apart from vague
tenderness, abdominal examination is normal.
Results were:
Hb 6.8 g/dl
WBC 23.8 x 109/1
Platelets 26 x 109/1
Na 128 mmol/1
K 5.4 mmol/1
HCO 3 20 mmol/1
Urea 26.7 mmol/1
Creatinine 243 micromol/1
1. What is the likely diagnosis?
2. Name two further investigations which will
confirm the diagnosis.
3. What are the two main therapeutic measures in
this condition?
affected lobe is the only treatment and the long-term
prospects are good provided the remaining lobe and
contralateral lung are not hypoplastic.
Answer 2
1. Bilateral cataracts.
2~. Isolated hereditary cataracts, intrauterine infection,
e.g. rubella, chromosomal abnormality, e.g. Down's
syndrome and other trisomies, metabolic disorder,
e.g. galactosaemia, Lowe's syndrome.
3. Autosomal dominant
Comment" A cataract is a partial or complete opacity
of the lens. The aetiology is diverse and the likely
cause varies with age at presentation. Cataracts devel-
oping in infancy are usually termed developmental
cataracts and include:
• Hereditary cataracts - usually bilateral and
autosomal dominantly inherited. There are rarely
any associated abnormalities, and in many cases
the visual deficit is minor.
• Cataracts secondary to an underlying disease -
may be associated with infections, metabolic
disorders, or other ocular conditions many of
which have a hereditary basis.

Treatment is usually surgical removal of the lens but
depends on the degree of visual impairment and the age
at presentation. Correction of the resulting refractive
error is essential. Early surgery is particularly important
where the cataract is present at birth to allow develop-
ment of the fixation reflex and to prevent nystagmus.
Answer 3
1. Rickets.
2. Serum phosphate (low), serum calcium (low or
normal), alkaline phosphatase (high), vitamin D
(low).
3. Nutritional deficiency, e.g. lack of sunlight,
vitamin D or calcium. Increased vitamin D
requirements, e.g. prematurity, malabsorption,
anticonvulsant therapy. Abnormal vitamin D
metabolism, e.g. chronic liver disease, chronic
renal failure (renal osteodystrophy). Others, e.g.
vitamin D dependent rickets, vitamin D resistant
rickets, renal tubular acidosis.
Comment: Nutritional rickets is uncommon in white
Caucasian children but affects over 10% of Asian chil-
dren in the UK. This is due to the combined effect of
lack of exposure to sunlight and deficiency of vitamin
D in the diet.
Clinical features of rickets in infants include skull
bossing, craniotabes and an abnormally wide or
delayed closure of the anterior fontanelle. Other
causes of delayed closure of the anterior fontanelle
include hypothyroidism, hydrocephalus, Down's syn-
drome (and other trisomies), congenital infections
and achondroplasia.
Other features seen in rickets include bowing of the
long bones, fractures, swelling of the wrist and the
costochondral junctions (rachitic rosary), growth fail-
ure and muscle weakness.
Typical X-ray abnormalities are delayed ossification,
and the metaphyses appear cupped, broad and irregular.
Vitamin D is routinely given to preterm and very
low birthweight infants and supplementation in other
high risk groups such as Asian infants may prevent
the development of rickets.
Answer 4
1. Airway - intubate if necessary.
Breathing - give 100% oxygen.
- bag and mask ventilation if
inadequate.
Circulation - establish i.v. access.
- give 20 ml/kg fluid (preferably
colloid) if poorly perfused.
2. Blood glucose, electrolytes, blood culture, full
blood count, lumbar puncture, blood gases,
calcium and magnesium.
Self-assessment questions 271
3. Diazepam at a dose of 0.25-0.4 mg/kg i.v. or
0.4 mg/kg PR, repeated after 5 rain if no response.
4. Meningitis.
Comment: Status epilepticus is defined as a seizure of
more than 30 min duration or repeated seizures with-
out recovery between them. Common causes in child-
hood include:
• idiopathic epilepsy
• cerebral trauma
• meningitis
• encephalopathy
• poisoning
General supportive measures in status epilepticus
include fluid restriction to two-thirds normal require-
ments and close monitoring of BE oxygen saturation,
ECG, urine output and blood glucose. Airway, breath-
ing and circulation should be regularly reassessed as
anticonvulsant therapy can cause respiratory depression
and hypotension.
The mortality in status epilepticus is approximately
10% and death may be due to airway obstruction or
the underlying disease process. Long-term neurologi-
cal sequelae are commoner in young infants and in
cases where the convulsion lasts more than 60 min.
Answer 5
1. Haemolytic uraemic syndrome.
2. Urinalysis for haematuria. Blood film for evidence
of haemolysis.
3. Blood transfusion to correct anaemia. Dialysis
(required in 75% of cases).
Comments: Haemolytic uraemic syndrome is the single
commonest paediatric cause of acute renal failure in the
UK. It is characterized by microangiopathic haemolytic
anaemia, thrombocytopaenia and acute renal failure.
The most common epidemic form occurs in infants
and young children during summer months, usually
preceded by a diarrhoeal illness. The rarer and more
severe sporadic type occurs in older children and
usually has a respiratory prodrome.
It has been reported to occur in association with
many viruses including coxsackie and influenza, but
recent epidemics have most commonly been associated
with a verotoxin-producing strain of E. coli 0157:H7.
Clinical features include bloody diarrhoea, abdomi-
nal pain, pallor, haematuria and oliguria. Purpura and
gastrointestinal bleeding may occur. Hypertension, if
present, is usually mild.
Investigations show severe anaemia, thrombocyto-
paenia and usually a leucocytosis. The blood film
shows distorted and fragmented erythrocytes cOnsis-
tent with a microangiopathic haemolytic anaemia.
Treatment includes blood transfusion, fastidious
attention to fluid balance, dialysis, if acidotic and
uraemic, and early treatment of hypertension and sepsis.