Your Name: Michael O’Connor

Theme: Paediatric Haematology

OPTION LIST

A	Alpha Thalassaemia	I	Haemophilia A
B	Burkitt’s Lymphoma	J	Haemophilia B
C	Sickle Cell Anaemia	K	Von Willebrands Disease
D	Haemolytic Uraemic Syndrome	L	Beta Thalassaemia
E	Acute Lymphoblastic Leukaemia	M	Glucose-6-phosphate dehydrogenase deficiency
F	Acute Myeloid Leukaemia	N	Autoimmune Thrombocytopenia
G	Langerhans’ cell histiocytosis	O	Gaucher’s Disease
H	Infectious mononucleosis	P	Malaria

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 6 year old boy from Greece presents to paediatric outpatients with severe anaemia. On examination he is anaemic and has enlarged maxilla and prominent frontal and parietal bones and hepatosplenomegaly. A skull X-ray reveals expansion of the medullary cavity giving rise to a ‘hair on end’ appearance. What is the likely diagnosis?

2. You are asked to see a neonate who while being treated for a urinary tract infection with Nitrofurantoin has developed jaundice. The blood film shows red cells with absent haemoglobin and polychromasia. What is the likely diagnosis?

3. A 4 year old Afro-Caribbean girl presents to A&E with severe bony pain in her hands and feet and shortness of breath. Her oxygenation is 85% on air. On investigation her Hb is found to be very low at 6.3g/dl. What is the likely diagnosis?

4. A 2 year old girl presents to his GP following a viral illness with purpuric rash, ecchymoses and epistaxis. Normal haemoglobin and white cell count and platelets 19x10⁹/L. Bone marrow show increased numbers of megakaryocytes. What is the likely diagnosis?

5. A 9 month old boy presents to A&E with excessive bleeding following circumcision. Laboratory investigations reveal a prolonged activated partial thromblastin time (APTT), normal prothrombin time (PT) and a factor VIII level which is 10% of normal. What is the likely diagnosis?

ANSWERS

1. L

2. M

3. C

4. N

5. I