Perinatal Intracranial Hemorrhage as First Manifestation of Congenital Hypofibrinogenemia

Abstract

We describe a new case of congenital hypofi brinogenemia revealed by the dramatic occurrence of a perinatal intracranial hemorrhage, which resulted in dif fuse multicystic encephalopathy with severe hydroceph alus. The family history was negative for hemorrhagic tendency, but the assessment of a complete coagulation study showed the presence of low fibrinogen coagulant and antigen plasma levels both in the patient and in her 5-year-old healthy sister. Because the hereditary trans mission of the disease is autosomal recessive, similar fi brinogen concentrations were expected in the two af fected sisters. However, the patient showed lower levels than the sister (14 mg/dl and 46 mg/dl, respectively): a different phenotypic expression of the disorder or the dif ferent age of the two sisters could provide some explana tion. Moreover, we emphasize the importance of neonatal coagulative screening for the diagnosis of such defects.