Pathology EMQ template.

Name: Laura Wilkinson

Theme: Paediatric Clinical Chemistry

 

OPTION LIST

 

A	Ascending cholangitis	I	Hypothyroidism
B	Biliary Atresia	J	Necrotising enterocolitis
C	Classic galactosaemia	K	Rickets
D	Congential adrenal hyperplasia	L	Tyrosinaemia 1
E	Crigler-Najjar Type 1 syndrome	M	Wolman’s syndrome
F	Diabetes mellitus	N	Lesch Nyhan Syndrome
G	G-6-PD deficiency	O
H	Hepatitis A	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 three week old girl is brought to A&E by her mother concerned due to yellow colouring of her skin that has been present since first few days of birth. Her serum bilirubin is 370 µmol/L and there is no expression of UDP glucuronosyltransferase. On further questioning of the mother you find that she is married to her cousin.

 

2. A 5 year old boy visits his GP showing signs of pubic hair and small testes. It is also noted that he is taller than average. Blood work reveals low levels of aldosterone and cortisol.

 

3. A two week old boy is brought in to A&E with vomiting, smelly stools and failure to thrive. On examination you find that he is jaundiced with an enlarged liver and spleen. Your senior thinks that he may have a rare condition where calcium is deposited in the adrenal glands and sends him for an MRI.

 

4. A premature infant in hospital for observation is noted to have a feeding intolerance, abdominal distension and recently bloody stools. On investigation a plain x-ray was carried out revealing pneumatosis intestinalis and dilated bowel loops.

 

5. A one year old boy is brought to see his GP. His mother is concerned over slowness to reach milestones, poor muscle control and his continued biting of his lip and fingers. Blood tests reveal high levels of uric acid.

 

 

 

ANSWERS

1. E

2. D

3. M

4. J

5. N