title: Mucolipidosis type II in a domestic shorthair cat.
abstract: A seven-month-old, female domestic shorthair cat was presented to the Veterinary Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth and progressive hindlimb paresis. On physical examination the cat had a flat, broad face with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids. The corneas of both eyes were clear and the pupils were dilated. The skin was generally thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The toluidine blue spot test on a urine sample, however, was negative for glycosaminoglycans. Further biochemical investigations revealed a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron microscopy of different tissues are briefly summarised. The findings of this cat, the first reported case of mucolipidosis type II are compared with other similar storage diseases described in the cat.
authors.affiliation: Department of Reproduction, Faculty of Veterinary Medicine, University of Zürich, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Hubler
authors.forename: M E
authors.initials: ME
authors.lastname: Haskins
authors.forename: S
authors.initials: S
authors.lastname: Arnold
authors.forename: B
authors.initials: B
authors.lastname: Kaser-Hotz
authors.forename: N U
authors.initials: NU
authors.lastname: Bosshard
authors.forename: J
authors.initials: J
authors.lastname: Briner
authors.forename: M A
authors.initials: MA
authors.lastname: Spycher
authors.forename: R
authors.initials: R
authors.lastname: Gitzelmann
authors.forename: H J
authors.initials: HJ
authors.lastname: Sommerlade
authors.forename: K
authors.initials: K
authors.lastname: von Figura
mesh_terms: D000818:Animals; D001369:Axons / Q000648:ultrastructure; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000648:ultrastructure; D002356:Cartilage / Q000648:ultrastructure; D002371:Cat Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D002415:Cats; D003238:Connective Tissue / Q000648:ultrastructure; D005260:Female; D007962:Leukocytes / Q000201:enzymology / Q000648:ultrastructure; D008854:Microscopy, Electron / Q000662:veterinary; D009081:Mucolipidoses / Q000175:diagnosis / Q000473:pathology / Q000662:veterinary*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000378:metabolism / Q000662:veterinary; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis / Q000378:metabolism / Q000662:veterinary; D016538:Mucopolysaccharidosis VII / Q000175:diagnosis / Q000378:metabolism / Q000662:veterinary; D011859:Radiography; D012867:Skin / Q000648:ultrastructure