title: Inherited lysosomal storage disease in an English springer spaniel.
abstract: Alpha-L-fucosidosis was diagnosed in a 17-month-old English Springer Spaniel with a history of slow development and progressive visual impairment. Lymphocytes and mononuclear cells with vacuolated cytoplasm were seen in a blood smear and in CSF, respectively. A severe deficiency of alpha-L-fucosidase activities in plasma and leukocytes was determined. Histologic examination revealed vacuolation of neurons, macrophages, and epithelial cells in most organ tissues. Canine fucosidosis is a progressive and fatal lysosomal storage disease in English Springer Spaniels. Affected dogs develop a neurologic disorder characterized by progressive motor and mental deterioration. Visual impairment is an unusual primary sign in a dog with alpha-L-fucosidosis.
authors.affiliation: Department of Clinical Studies, Ontario Veterinary College, University of Guelph, Canada.
authors.forename: C B
authors.initials: CB
authors.lastname: Keller
authors.forename: J
authors.initials: J
authors.lastname: Lamarre
mesh_terms: D000818:Animals; D001947:Breeding; D002540:Cerebral Cortex / Q000473:pathology / Q000648:ultrastructure; D004283:Dog Diseases / Q000473:pathology*; D004285:Dogs; D005260:Female; D005645:Fucosidosis / Q000473:pathology / Q000662:veterinary*; D008854:Microscopy, Electron; D010525:Peripheral Nerves / Q000473:pathology; D005644:alpha-L-Fucosidase / Q000097:blood* / Q000172:deficiency
chemical_list: D005644:alpha-L-Fucosidase