Pathology EMQ template.

Name: Thomas Beaney

Theme: Disorders of calcium handling

 

OPTION LIST

 

A	Osteomalacia	I	Williams syndrome
B	Nutritional rickets	J	McCune-Albright syndrome
C	Russell Silver syndrome	K	DiGeorge syndrome
D	Familial hypercalciuric hypercalcaemia	L	Multiple endocrine neoplasia
E	Paget’s disease	M	Fanconi anaemia
F	Ehlers-Danlos syndrome	N	Fanconi syndrome
G	Familial hypophosphataemic rickets	O	Marfan’s syndrome
H	Burnett’s syndrome	P	Gaucher’s syndrome

 

 

For each scenario below, choose the most appropriate diagnosis from the list above. Each option may be used once, more than once or not at all.

 

1. You are called to see a 1 day-old baby on NICU who is awaiting surgery for a cyanotic heart defect. The child has just had a seizure. On examination, you find the child to have abnormal facial features, with low-set ears and wide-spaced eyes. Bloods show hypocalcaemia, hypophosphataemia and very low PTH.

 

 

2. A father brings his 7-year old daughter to the GP as she has been passing urine far more frequently over the last weeks. On questioning, the child admits to always feeling thirsty and drinking much more recently. She is found to have slipped 2 centiles in growth since last year. Examination reveals bowed legs and Kayser-Fleischer rings, while investigation reveals hypophosphataemia and hypokalaemia.

 

 

 

3. A 6-year old girl presents to her GP with a progressive limp over the last 2 months. On questioning, her mother says she has noticed breast development but this hasn’t overly worried her. Examination reveals the right leg to be 2cm shorter than the left with stiffness in the right ankle. A single large café-au-lait spot is found spreading from the right side of the neck to the midline, which has been present since birth. Blood tests show hypophosphataemia and raised ALP.

 

 

4. A 24-year old mother from Saudi Arabia brings in her 12 month old child as she has concerns regarding his growth. On examination you find signs of craniotabes, a depression on the lower chest, and the child also appears floppy.

 

 

 

5. A worried mother brings in her 10-year old son as he has not been feeling himself for some weeks. He complains of nausea, constipation and tiredness. He fractured his left ulna two months ago, and his arm is now causing him pain. However, his mother is keen to stress that he cannot have another fracture, as she has made sure he drinks plenty of milk to keep his bones strong.

 

 

 

ANSWERS

1. K

2. N

3. J

4. B

5. H