Clinical and Morphologic Features of Mucopolysaccharidosis Type II in a Dog: Naturally Occurring Model of Hunter Syndrome
| Autor: | D. C. Lewis, M. J. Wilkerson, D. J. Prieur, Stanley L. Marks |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Cerebellum 040301 veterinary sciences Mucopolysaccharidosis Corneal dystrophy Iduronate Sulfatase Biology Epithelium 0403 veterinary science Purkinje Cells 03 medical and health sciences Dogs Fatal Outcome Internal medicine medicine Lysosomal storage disease Animals Dog Diseases Mucopolysaccharidosis type II Medulla Mucopolysaccharidosis II General Veterinary Coarse facial features Hunter syndrome 04 agricultural and veterinary sciences medicine.disease beta-N-Acetylhexosaminidases 030104 developmental biology Endocrinology medicine.anatomical_structure Spinal Cord Female Bile Ducts Hair Follicle |
| Zdroj: | Veterinary Pathology. 35:230-233 |
| ISSN: | 1544-2217 0300-9858 |
| Popis: | A 5-year-old male Labrador Retriever had progressive incoordination, visual impairment, and exercise intolerance. Coarse facial features, macrodactylia, unilateral corneal dystrophy, generalized osteopenia, progressive neurologic deterioration, and a positive urine spot test for acid mucopolysaccharides suggested mucopolysaccharidosis. Intracytoplasmic vacuoles were most prevalent in epithelial cells, endothelial cells, and histiocytes of liver, kidney, thyroid gland, and spleen. Ultrastructural examination disclosed electron-lucent floccular to lamellar membrane-bound storage material characteristic of mucopolysaccharides. Periodic acid-Schiff-positive intracytoplasmic material was identified in multiple neurons in the medulla, pontine nucleus, cerebellum, and spinal gray matter horns. Biochemical assays identified a deficiency in iduronate-2-sulfatase (IDS) activity in cultured dermal fibroblasts compared with normal dogs. Hair root analysis for IDS showed that the dam was a carrier of X-linked Hunter syndrome and that a phenotypically normal male littermate of the affected dog was normal. This is the first report of Hunter syndrome or mucopolysaccharidosis type II in a dog. |
| Databáze: | OpenAIRE |
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