Abstract
Hereditary deficiency of prothrombin is a rare autosomal recessive bleeding disorder,
with severe bleeding diathesis in homozygotes, but rarely resulting in intracranial
haematoma. We describe two infants of consanguineous parents, presenting with acute
subdural haematoma. Because such haematomas in infancy are highly indicative of trauma
caused by child battering and because the socio-economic status of the family was
unstable, there was a suspicion of child battering. However, further investigations
revealed a bleeding diathesis due to a prothrombin deficiency. DNA analysis of the
prothrombin gene showed homozygosity for a novel mutation, substituting Lys for Glu
at codon 7 and resulting in decreased specific clotting activity. We discuss the probability
of bleeding diathesis versus child battering in the aetiology of intracranial haematoma.
Key words
Intracranial haematoma - Prothrombin deficiency - Child battering - Prothrombin gene
mutation
