Pathology EMQ template.

Name: Edward Cairns

Theme: Paediatric Clinical Chemistry

 

OPTION LIST

A	Alpha-1-Anti-Trypsin Deficiency	I	Rickets
B	Congenital Adrenal Hyperplasia	J	Transient Hyperphosphatasemia
C	Congenital Adrenal Hypoplasia	K	Volvulus
D	Galactosaemia	L
E	Necrotising Enterocolitis	M
F	Organic Acidaemia	N
G	Ornithine Transcarbamylase Deficiency	O
H	Pyloric Stenosis	P

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1. A 4 day old baby born at 32 weeks gestation presents with abdominal extension and bloody stools. Abdominal X-ray shows the presence of intra-mural air.

 

2. A 3 week old female baby presents with vomiting. On examination the baby looks dehydrated. Blood results show a low Na and a high K. On further questioning the mother reports that the baby has ambiguous genitalia.

 

3. A female baby presents with jaundice. The mother reports that she was slow to feed and frequently vomits. On examination there is hepatomegaly and bilateral cataracts. Blood tests: total bilirubin 168µmol/l; conjugated bilirubin 30µmol/l; ALP 244U/l; AST122U/l

 

4. A 2 year old boy presents with failure to thrive. On examination there is frontal bossing and varus of the knees. Blood tests: Ca 2.1mmol/l; Phosphate 0.95mmol/l; ALP 1300U/l

 

5. A 1 day old baby who presented with vomiting and grunting respiration rapidly becomes unresponsive. The parents are first cousins. Blood ammonia levels are high, but the baby is not acidotic. Urine testing shows high levels of orotic acid. Unfortunately, despite intensive treatment the baby dies.

 

ANSWERS

1. E

2. B

3. D

4. I

5. G