These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.
    Author: Nowaczyk MJ, Feigenbaum A, Silver MM, Callahan J, Levin A, Jay V.
    Journal: J Inherit Metab Dis; 1996; 19(5):655-60. PubMed ID: 8892023.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]