Pathology EMQ template.

Name: Charlotte Lake

Theme: Metabolic Disorders and Screening

 

OPTION LIST

 

A	MELAS	I	Mitochondrial Disorders
B	Glycogen Storage Disease Type 1	J	Galactosaemia
C	Lysosomal Storage Disease	K
D	Glycosylation Disorder	L
E	Organic Aciduria	M
F	Kearns-Sayre	N
G	Barth	O
H	Peroxisomal Disorder	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 worried mother brings in her baby to your clinic. He is floppy and she complains of him having a very smelly odd odour, despite extensive washing. When you see him he appears to have twitchy movements.

 

2. A 5 year old girl presents with vomiting, abdominal pain, extreme tiredness and incontinence, Parents report that she frequently has headaches and is weak in comparison to her peers

 

3. A baby is admitted to A and E with sepsis. On clinical examination he has slight hepatomegaly and tests reveal a conjugated hyperbilirubinaemia and hypoglycaemia. Parents reveal he frequently vomits and refuses his food.

 

4. A baby is born unable to hold his head up. On closer inspection he also exhibits some craniofacial dysmorphism and his head appears unusually large. Blood tests reveal a hyperbilirubinaemia

 

5. A young girl presents to A and E with a seizure. The history reveals that she has developmental delays and deafness in one ear. Examination reveals hepatosplenomegaly.

 

 

ANSWERS

1. E

2. A

3. J

4.

5.