Recurrent intraparenchymal brain hemorrhage in an infant with factor XIII deficiency

Abstract

Factor XIII deficiency is an autosomal recessive disorder with an incidence of 1 in 1-5 million. On activation factor XIII stabilizes clot formation by cross-linking fibrin strands. Deficiency is characterized by severe bleeding due to impairment in clot formation. We describe a case of a child presenting with drowsiness following a trivial fall and trauma to the head. An emergency CT scan of the brain was suggestive of acute on chronic (recurrent) hemorrhage. Intraoperatively he was noted to have an intraparenchymal multiloculated cystic cavity with a thinned out cortex in the right frontal region. The child underwent right frontal craniotomy and decompression of an intracerebral hemorrhage. He was subsequently diagnosed to have factor XIII deficiency. He is presently on monthly cryoprecipitate prophylaxis with which he has not experienced a recurrence of a similar episode.