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? Question 5

2. What biochemical investigations would confirm
the diagnosis? A 3-year-old boy presents with a 5 day history of
3. What are the common causes of this condition? 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
Question 4
are well. On examination he is tired and miserable, has
pale conjunctivae, mildly jaundiced sclerae and his
A 6-year-old girl presents at casualty in status epilepti-
face looks oedematous. He is apyrexial, his heart rate
cus. She has been generally unwell for 12 h with
is 130/min and his BP is 100/75. His chest is clear,
increasing irritability, fever and vomiting. She has no
heart sounds are normal and, apart from vague
previous history of convulsions, her developmental
tenderness, abdominal examination is normal.
progress has been normal, she is fully immunized and
is on no medication. Facial oxygen only has been
Results were:
given during transfer to hospital and on arrival you
are told she has been convulsing for 45 rain. On exam- Hb 6.8 g/dl
ination, she has symmetrical clonic movements of all WBC 23.8 x 109/1
limbs. She is pyrexial (38.5°C), oxygen saturation is Platelets 26 x 109/1
94% and her BP is 90/60. Na 128 mmol/1
K 5.4 mmol/1
1. What should be your initial management?
HCO 3 20 mmol/1
2. State initial investigations.
Urea 26.7 mmol/1
3. Which anticonvulsant should be used as first-line
Creatinine 243 micromol/1
treatment?
4. Given the above presentation, what is the most
1. What is the likely diagnosis?
likely underlying condition?
2. Name two further investigations which will
confirm the diagnosis.
3. What are the two main therapeutic measures in
this condition?

Self-assessment answers for Paediatrics affected lobe is the only treatment and the long-term
prospects are good provided the remaining lobe and
contralateral lung are not hypoplastic.
Answer 1
Answer 2
1. Cystic enlargement of the left upper lobe.
Mediastinal shift towards the right. 1. Bilateral cataracts.
2. Cystic adenomatoid malformation 2~. Isolated hereditary cataracts, intrauterine infection,
3. Surgical removal of the affected lobe e.g. rubella, chromosomal abnormality, e.g. Down's
syndrome and other trisomies, metabolic disorder,
Comment: Cystic adenomatoid malformation is a con- e.g. galactosaemia, Lowe's syndrome.
genital abnormality usually affecting a single lobe of 3. Autosomal dominant
one lung. Cystic enlargement of the affected lobe
Comment" A cataract is a partial or complete opacity
causes compression of the normal ipsilateral lobe and
of the lens. The aetiology is diverse and the likely
contralateral lung which may also be hypoplastic. The
cause varies with age at presentation. Cataracts devel-
cysts vary in size, large thin-walled cysts often being
oping in infancy are usually termed developmental
confused with a diaphragmatic hernia. Other diag-
cataracts and include:
noses to consider are congenital lobar emphysema or a
cystic pulmonary sequestration. Around a quarter of • Hereditary cataracts - usually bilateral and
all cases are stillborn. Those liveborn are often preterm autosomal dominantly inherited. There are rarely
with associated polyhydramnios and hydrops. Most any associated abnormalities, and in many cases
cases develop symptoms of acute respiratory distress the visual deficit is minor.
in the neonatal period but presentation may be delayed • Cataracts secondary to an underlying disease -
in less severely affected cases. The diagnosis is con- may be associated with infections, metabolic
firmed radiologically with the demonstration of a cys- disorders, or other ocular conditions many of
tic mass and mediastinal shift. Surgical excision of the which have a hereditary basis.
 Self-assessment questions 271

Treatment is usually surgical removal of the lens but 3. Diazepam at a dose of 0.25-0.4 mg/kg i.v. or
depends on the degree of visual impairment and the age 0.4 mg/kg PR, repeated after 5 rain if no response.
at presentation. Correction of the resulting refractive 4. Meningitis.
error is essential. Early surgery is particularly important
Comment: Status epilepticus is defined as a seizure of
where the cataract is present at birth to allow develop-
more than 30 min duration or repeated seizures with-
ment of the fixation reflex and to prevent nystagmus.
out recovery between them. Common causes in child-
hood include:
Answer 3
• idiopathic epilepsy
• cerebral trauma
1. Rickets. • meningitis
2. Serum phosphate (low), serum calcium (low or • encephalopathy
normal), alkaline phosphatase (high), vitamin D • poisoning
(low).
General supportive measures in status epilepticus
3. Nutritional deficiency, e.g. lack of sunlight,
include fluid restriction to two-thirds normal require-
vitamin D or calcium. Increased vitamin D
ments and close monitoring of BE oxygen saturation,
requirements, e.g. prematurity, malabsorption,
ECG, urine output and blood glucose. Airway, breath-
anticonvulsant therapy. Abnormal vitamin D
ing and circulation should be regularly reassessed as
metabolism, e.g. chronic liver disease, chronic
anticonvulsant therapy can cause respiratory depression
renal failure (renal osteodystrophy). Others, e.g.
and hypotension.
vitamin D dependent rickets, vitamin D resistant
The mortality in status epilepticus is approximately
rickets, renal tubular acidosis.
10% and death may be due to airway obstruction or
Comment: Nutritional rickets is uncommon in white the underlying disease process. Long-term neurologi-
Caucasian children but affects over 10% of Asian chil- cal sequelae are commoner in young infants and in
dren in the UK. This is due to the combined effect of cases where the convulsion lasts more than 60 min.
lack of exposure to sunlight and deficiency of vitamin
D in the diet. Answer 5
Clinical features of rickets in infants include skull
bossing, craniotabes and an abnormally wide or
1. Haemolytic uraemic syndrome.
delayed closure of the anterior fontanelle. Other
2. Urinalysis for haematuria. Blood film for evidence
causes of delayed closure of the anterior fontanelle
of haemolysis.
include hypothyroidism, hydrocephalus, Down's syn-
3. Blood transfusion to correct anaemia. Dialysis
drome (and other trisomies), congenital infections
(required in 75% of cases).
and achondroplasia.
Other features seen in rickets include bowing of the Comments: Haemolytic uraemic syndrome is the single
long bones, fractures, swelling of the wrist and the commonest paediatric cause of acute renal failure in the
costochondral junctions (rachitic rosary), growth fail- UK. It is characterized by microangiopathic haemolytic
ure and muscle weakness. anaemia, thrombocytopaenia and acute renal failure.
Typical X-ray abnormalities are delayed ossification, The most common epidemic form occurs in infants
and the metaphyses appear cupped, broad and irregular. and young children during summer months, usually
Vitamin D is routinely given to preterm and very preceded by a diarrhoeal illness. The rarer and more
low birthweight infants and supplementation in other severe sporadic type occurs in older children and
high risk groups such as Asian infants may prevent usually has a respiratory prodrome.
the development of rickets. It has been reported to occur in association with
many viruses including coxsackie and influenza, but
recent epidemics have most commonly been associated
Answer 4
with a verotoxin-producing strain of E. coli 0157:H7.
Clinical features include bloody diarrhoea, abdomi-
1. Airway - intubate if necessary. nal pain, pallor, haematuria and oliguria. Purpura and
Breathing - give 100% oxygen. gastrointestinal bleeding may occur. Hypertension, if
- bag and mask ventilation if present, is usually mild.
inadequate. Investigations show severe anaemia, thrombocyto-
Circulation - establish i.v. access. paenia and usually a leucocytosis. The blood film
- give 20 ml/kg fluid (preferably shows distorted and fragmented erythrocytes cOnsis-
colloid) if poorly perfused. tent with a microangiopathic haemolytic anaemia.
2. Blood glucose, electrolytes, blood culture, full Treatment includes blood transfusion, fastidious
blood count, lumbar puncture, blood gases, attention to fluid balance, dialysis, if acidotic and
calcium and magnesium. uraemic, and early treatment of hypertension and sepsis.