[Farber's lipogranulomatosis. Apropos of a case].
A case of Farber's lipogranulomatosis is described in an 18 month-old girl. There was clinical evidence for diagnosis, which was confirmed by a ceramidase activity assay on cultured fibroblasts. A study of the conjunctiva by electron microscopy was performed. The authors emphasize the clinical and biological characteristics of such cases.
D000581:Amidohydrolases / Q000172:deficiency; D055572:Ceramidases; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D012583:Schwann Cells / Q000648:ultrastructure; D013106:Sphingolipidoses / Q000175:diagnosis* / Q000473:pathology; D014617:Vacuoles / Q000473:pathology
D000581:Amidohydrolases; D055572:Ceramidases
Lipogranulomatose de Farber. A propos d'un cas.