Pathology teach and tell: fibrinogen storage disease in a child with hypofibrinogenemia and decreased ceruloplasmin.
The authors present a clinical case of a patient with mild liver disease and coagulopathy. The diagnosis was reached through careful histologic examination of liver biopsy. Electron microscopy played an important role in confirming the diagnosis.
Bruzzi
Cynthia
C
Department of Pathology, George Washington University School of Medicine, Washington, DC, USA.
Bader
Ali
A
Luban
Naomi L C
NL
Przygodzki
Ronald
R
Ahmed
Atif Ali
AA
D001706:Biopsy; D001778:Blood Coagulation Disorders / Q000150:complications; D002570:Ceruloplasmin / Q000378:metabolism*; D002648:Child; D005340:Fibrinogen / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008099:Liver / Q000473:pathology / Q000648:ultrastructure; D008107:Liver Diseases / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism*; D008297:Male; D008659:Metabolic Diseases / Q000150:complications / Q000175:diagnosis / Q000378:metabolism
D005340:Fibrinogen; D002570:Ceruloplasmin