ABSTRACT
A 15-year-old girl is referred with menorrhagia and anaemia. She suffers frequent bruises during basketball games. Her mother is concerned about excessive loss of blood during her period.
Results reveal:
Hb 9.1 g/dl MCV 85 fl WCC 7.2 × 109/l MCHC 32 g/dl Plt 350 × 109/l PT 14 s (normal 14 s) APTT 60 s (normal 40 s)
1. What is the most likely diagnosis? a. Haemophilia B b. Leukaemia c. Fanconi anaemia d. Aplastic anaemia e. Von Willebrand disease
2. What other four investigations are indicated? a. FVIIIC assay b. Platelet aggregation with ristocetin c. vWF:Ag assay d. Family study e. Bone marrow aspiration f. Factor X assay
3. What is the inheritance of this condition? a. Sporadic b. Autosomal recessive c. Autosomal dominant d. X-linked recessive e. None of the above
This is a sleep EEG of a 9-year-old girl referred to the Outpatients Department with a history of generalized seizures and abnormal movement of the mouth during the seizure. She has had three attacks – all of them at night.
