Peer-reviewed veterinary case report
Dog with progressive incoordination and vision loss from Hunter
By Wilkerson, M J et al.·Published in Veterinary pathology·1998·Department of Diagnostic Medicine/Pathobiology, United States·View original on PubMed →
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Original publication title: Clinical and morphologic features of mucopolysaccharidosis type II in a dog: naturally occurring model of Hunter syndrome.
- Species:
- dog
Plain-English summary
A 5-year-old male Labrador Retriever was brought in because he was having trouble coordinating his movements, had trouble seeing, and was easily tired during exercise. The vet found that he had unusual facial features and other signs that pointed to a rare genetic condition called mucopolysaccharidosis type II, which is similar to Hunter syndrome in humans. Tests showed a deficiency in a specific enzyme, and it was determined that his mother was a carrier of this condition. Unfortunately, this case highlights a serious genetic disorder, and the dog’s symptoms indicate a progressive decline in health.
People also search for: dog incoordination vision problems · Labrador Retriever exercise intolerance · Hunter syndrome in dogs
Abstract
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/9598589/