PERINATAL INTRACRANIAL HEMORRHAGE AS FIRST MANIFESTATION OF CONGENITAL HYPOFIBRINOGENEMIA

We describe a new case of congenital hypofibrinogenemia revealed by th e dramatic occurrence of a perinatal intracranial hemorrhage, which re sulted in diffuse multicystic encephalopathy with severe hydrocephalus . The family history was negative for hemorrhagic tendency, but the as sessment of a complete coagulation study showed the presence of low fi brinogen coagulant and antigen plasma levels both in the patient and i n her 5-year-old healthy sister. Because the hereditary transmission o f the disease is autosomal recessive, similar fibrinogen concentration s were expected in the two affected sisters. However, the patient show ed lower levels than the sister (14 mg/dl and 46 mg/dl, respectively): a different phenotypic expression of the disorder or the different ag e of the two sisters could provide some explanation. Moreover, we emph asize the importance of neonatal coagulative screening for the diagnos is of such defects.