Pathology EMQ template.
Name: Kayur Patel
Theme: Paediatric Clinical Chemistry
OPTION LIST
|
A |
Breast milk jaundice |
I |
Osteopenia of prematurity |
|
B |
Rickets |
J |
Xanthine oxidase |
|
C |
Alpha 1 antitrypsin deficiency |
K |
Wolman Disease |
|
D |
Hypothyroidism |
L |
Familial Hypophosphataemia |
|
E |
Congenital adrenal hyperplasia |
M |
Alpha 21 hydroxylase deficiency |
|
F |
Crigler-Najjar type 1 |
N |
Cystathionine beta synthase deficiency |
|
G |
Porphobilinogen deaminase |
O |
Lesch Nyhan Syndrome |
|
H |
G6PD deficiency |
P |
Schmidt’s syndrome |
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 mother has bought her 2 week old boy into accident and emergency. She says that her boy has vomited, has smellier stools and has become less responsive after being completely normal at birth. On examination you notice a large liver and spleen and that he is jaundiced. Your consultant thinks this child may have a rare condition in which calcium deposits in the adrenal glands and sends him for an MRI.
2. An Irish father brings in his 3 year old son who has developed problems with his vision. You notice that his son is tall with multiple musculoskeletal deformities. His father tells you that there is a family history of homocysteine in the urine. What enzyme is responsible?
3. A 1st time mother has bought her 3 week old to Accident and Emergency. You immediately notice her daughter is jaundiced. The mother says she has been this way since the first few days of life. After taking a better history you find that the mother is married to a cousin. Serum bilirubin is 370 µmol/L and you later find out that there is no expression of UDP glucuronosyltransferase.
4. An 8 week old baby has normal calcium but an ALP of 1300u/l. X-ray of the arms and hands reveal fraying and splaying.
5. A 5 week old term infant has presented with poor feeding and vomiting. He has been exclusively breast fed and been jaundiced for 2 weeks. He is bruised, has dark urine and pale stools. The bilirubin is raised and 80% is conjugated.
ANSWERS
|
1. K |
2. N |
3. F |
4. I |
5. C |