title: A case of Farber disease.
abstract: We report a case of Farber disease (Farber lipogranulomatosis). The main features were a shrill voice, joint swelling, subcutaneous nodules and retarded psychomotor development. Cytological investigation revealed intracytoplasmic inclusion bodies characteristic of Farber disease. Lipid analysis of liver tissue indicated an accumulation of ceramide containing non-hydroxy fatty acids. It was found that the acid ceramidase activity in the liver was reduced to 31% of the control value. In this patient there was also persistent diarrhea, cholelithiasis, transient proteinuria and increased urinary total sialic acids. These features have not been noted in previously reported cases.
authors.affiliation: Department of Pediatrics, Kokura Memorial Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fujiwaki
authors.forename: S
authors.initials: S
authors.lastname: Hamanaka
authors.forename: M
authors.initials: M
authors.lastname: Koga
authors.forename: T
authors.initials: T
authors.lastname: Ishihara
authors.forename: R
authors.initials: R
authors.lastname: Nishikomori
authors.forename: E
authors.initials: E
authors.lastname: Kinoshita
authors.forename: K
authors.initials: K
authors.lastname: Furusho
mesh_terms: D055573:Acid Ceramidase; D000581:Amidohydrolases / Q000097:blood / Q000172:deficiency* / Q000378:metabolism; D055572:Ceramidases; D006801:Humans; D007223:Infant; D008297:Male; D013106:Sphingolipidoses / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology
chemical_list: D000581:Amidohydrolases; C526693:ASAH1 protein, human; D055573:Acid Ceramidase; D055572:Ceramidases