Pathology EMQ template.

Name: Jana Kossaibati

Theme: Metabolic disorders and screening

 

OPTION LIST

 

A	Plasma ammonia	I	Hb electrophoresis
B	Blood glucose	J	Red cell Gal-1-PUT
C	Phenylalanine	K	Transferrin glycoforms
D	TSH	L
E	Very long chain fatty acids	M
F	Lactate, CSF protein, muscle biopsy	N
G	Conjugated bilirubin	O
H	Urine mucopolysaccharides and oligosaccharides	P

 

 

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

 

1. A neonate presenting with jaundice, poor muscle tone, constipation and a hoarse-sounding cry.

 

 

2. A neonate found to have cardiomyopathy, osteopenia, hepatomegaly.

 

 

3. A 15 year old presenting with opthalmoplegia, deafness and ataxia.

 

 

4. An infant presenting with deafness, hepatic dysfunction and calcified stippling of the patellar region on x-ray.

 

 

5. A neonate presenting with vomiting and lethargy is found to have a blood pH of 7.55.

 

 

 

ANSWERS

1. D

2. K

3. F

4. E

5. A