title: Feline sphingolipidosis resembling Niemann-Pick disease type C.
abstract: A 9-week old domestic short-hair kitten with progressive neurological dysfunction had histopathological lesions consistent with a lysosomal storage disease. Light microscopy of the brain, spinal cord, and ganglia revealed distention and vacuolation of many neuronal populations, and extensive neuroaxonal dystrophy. Large numbers of foamy macrophages were observed in the liver, spleen, lymph nodes, and lung. Hepatocytes appeared pale and swollen. Ultrastructural examination of all affected tissues and organs revealed heterogeneous membranous inclusions. Lipid analysis of liver revealed an excess of cholesterol, glucosylceramide, lactosylceramide and phospholipids including sphingomyelin. There was some increase in the levels of brain GM2 and GM3 gangliosides. Sphingomyelinase activity in liver was partially deficient or low normal. Skin fibroblasts were cultured from two affected cats from the colony established with littermates of the subject of this report. The cultured skin fibroblasts had partially decreased sphingomyelinase activity and a greatly decreased ability to esterify exogenous cholesterol. Clinical, morphological, and biochemical findings suggest that this cat had sphingolipidosis similar to human Niemann-Pick disease type C, a disease not previously described in the cat. The feline form of this storage disease may provide a useful model for studies on the human disease.
authors: Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, Ithaca 14853.
authors: A C
authors: AC
authors: Lowenthal
authors: J F
authors: JF
authors: Cummings
authors: D A
authors: DA
authors: Wenger
authors: M A
authors: MA
authors: Thrall
authors: P A
authors: PA
authors: Wood
authors: A
authors: A
authors: de Lahunta
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000473:pathology*; D002415:Cats; D002788:Cholesterol Esters / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D005727:Ganglia, Spinal / Q000473:pathology / Q000648:ultrastructure; D006028:Glycosphingolipids / Q000378:metabolism; D009422:Nervous System Diseases / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000473:pathology*; D012867:Skin / Q000166:cytology / Q000378:metabolism; D013106:Sphingolipidoses / Q000473:pathology* / Q000662:veterinary; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency
chemical_list: D002788:Cholesterol Esters; D006028:Glycosphingolipids; D013108:Sphingomyelin Phosphodiesterase