Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.
We report a case of Farber lipogranulomatosis in a girl with hepatosplenomegaly, macular cherry-red spot, and subcutaneous nodules who developed liver dysfunction with jaundice and ascites, and myelophthisic anaemia because of infiltration of bone marrow with storage cells. Acid ceramidase assay confirmed the diagnosis. We conclude that the bone marrow dysfunction and cherry-red spot are features of type IV Farber lipogranulomatosis that have not been previously recognized, and should be added to the clinical phenotypic description.
Division of Clinical Genetics, University of Toronto, Ontario, Canada.
M J
MJ
Nowaczyk
A
A
Feigenbaum
M M
MM
Silver
J
J
Callahan
A
A
Levin
V
V
Jay
D055573:Acid Ceramidase; D000581:Amidohydrolases / Q000172:deficiency; D000750:Anemia, Myelophthisic / Q000209:etiology; D001853:Bone Marrow / Q000473:pathology; D055572:Ceramidases; D002779:Cholestasis / Q000209:etiology; D003228:Conjunctiva / Q000473:pathology; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*; D010641:Phenotype; D013163:Splenomegaly / Q000209:etiology
D000581:Amidohydrolases; C526693:ASAH1 protein, human; D055573:Acid Ceramidase; D055572:Ceramidases