Pathology EMQ template.

Name: Robert Mitchell

Theme: Paediatric Clinical Chemistry

 

OPTION LIST

 

A	Beckwith-Wiedemann Syndrome	I	Medium Chain Acyl Dehydrogenase Deficiency
B	Breast Milk Jaundice	J	Necrotizing Enterocolitis
C	Coeliac Disease	K	Nesidioblastosis
D	Galactosaemia	L	Phenylketonuria
E	Hepatitis B	M	Poor Milk Intake
F	Hyperornithaemia-hyperammonaemia- homocitrullinuria	N	Reye’s Syndrome
G	Lysinuric Protein Intolerance	O
H	Maple Syrup Urine Disease	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 her three-day-old infant to A+E. He has been sleeping a lot and he has been unable to keep down any milk, refusing feeds. She also noticed that his skin has become darker.

 

 

2. Another mother is worried about a tired baby with feeding problems. She has noticed an odour, but isn’t sure if this is normal or not. Tests reveal a metabolic acidosis with a high anion gap.

 

 

3. A premature baby with a distended abdomen has been vomiting and producing bloody stools. An X-ray reveals intramural gas cysts.

 

 

4. A pale-looking child is brought in having recovered from a seizure. A heel-prick test reveals the effects of reduced enzyme activity.

 

 

5. An unresponsive infant is rushed to A+E. Blood tests show a greatly reduced glucose level. Her mother informs you her child has recently had a fever and not been feeding.

 

 

 

ANSWERS

1. D

2. H

3. J

4. L

5. I