Name: Anant Malde

Theme: Paediatric Clinical Chemistry

 

OPTION LIST

 

A	Congenital hypothyroidism	I	Phenylketonuria
B	Diabetic Ketoacidosis	J
C	Duchenne’s dystrophy	K
D	Guillain-Barre	L
E	Hepatitis A	M
F	Hepatitis C	N
G	Homocystinuria	O
H	Myastenia gravis	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 cause of learning difficulties present from birth and detected by the Guthrie test

 

 

2. Mainly affects fair haired and blue-eyed children. Usually presents with an unusual smell, convulsion, failure to thrive and detected by the Guthrie test.

 

 

3. 8 year old boy brought to A+E with drowsiness, hyperventilating, vomiting, and a strange smell on his breath.

 

 

4. 5 year old boy presenting with jaundice and confusion. His blood shows raised LFT’s. Diagnosis is made by detecting IgM antibodies

 

 

5. Baby presents with floppy limbs and started taking his first steps at 30 months. Blood results show raised serum creatine phosphokinase

 

 

ANSWERS

1. A

2. I

3. B

4. E

5. C