title: Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.
abstract: Two siblings born from consanguineous tunisian parents are reported. They showed a severe form of Farber's disease with prominent involvement of the central and peripheral nervous system: low conduction velocity was noticed in both children. Macular cherry red spots were observed in one of them. The diagnosis for the girl investigated was confirmed by evidence of ceramidase deficiency in cultured fibroblasts. Here we report the pathological findings in the subcutaneous nodules using light and electron microscopy (one case), and in sural nerves using morphometric studies (both cases). Varying morphological aspects of intracellular inclusions, depending on the tissues involved, are described and discussed. A review of all cases reported since Farber's first paper in 1952 is given.
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency; D055572:Ceramidases; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D012867:Skin / Q000201:enzymology / Q000648:ultrastructure*; D013106:Sphingolipidoses / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D013127:Spinal Nerves / Q000648:ultrastructure*; D013497:Sural Nerve / Q000648:ultrastructure*
chemical_list: D000581:Amidohydrolases; D055572:Ceramidases