Farber lipogranulomatosis: an unusual presentation in a black child.
Farber disease, a rare, inherited condition of lipid metabolism usually appears within the first two months of life. The patients may die in the first few years of life or may live into the second decade. We believe this patient to be the first black American reported with Farber disease. Additionally, the characteristics of the disease in this patient were at variance with previously reported cases.
Eviatar
L
L
Department of Pediatric Neurology, Long Island Jewish Medical Center, Schneider Children's Hospital; New Hyde Park, New York 10042.
Sklower
S L
SL
Wisniewski
K
K
Feldman
R S
RS
Gochoco
A
A
D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005696:Galactosidases / Q000172:deficiency*; D002517:Galactosylgalactosylglucosylceramidase / Q000172:deficiency*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008068:Lipomatosis / Q000235:genetics*; D008854:Microscopy, Electron; D009468:Neuromuscular Diseases / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*
D005696:Galactosidases; D002517:Galactosylgalactosylglucosylceramidase