Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy

Hereditary deficiency of prothrombin is a rare autosomal recessive bleeding disorder, with severe bleeding diathesis in homozygotes, but rarely result ing in intracranial haematoma, We describe two infants of consanguineous pa rents, presenting with acute subdural haematoma, Because such haematomas in infancy are highly indicative of trauma caused by child battering and beca use the socio-economic status of the family was unstable, there was a suspi cion of child battering. However, further investigations revealed a bleedin g diathesis due to a prothrombin deficiency, DNA analysis of the prothrombi n gene showed homozygosity for a novel mutation, substituting Lys for Glu a t codon 7 and resulting in decreased specific clotting activity, We discuss the probability of bleeding diathesis versus child battering in the aetiol ogy of intracranial haematoma.