Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Argâ\u86\u92Trp gene mutation

We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease. © 2006 Elsevier Inc. All rights reserved