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 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.
Strijks
E
E
Department of Child Neurology, University Hospital of Nijmegen, The Netherlands.
Poort
S R
SR
Renier
W O
WO
Gabreëls
F J
FJ
Bertina
R M
RM
D001497:Battered Child Syndrome / Q000150:complications / Q000175:diagnosis; D003241:Consanguinity; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006406:Hematoma / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007020:Hypoprothrombinemias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D010375:Pedigree