Clinical and morphologic features of mucopolysaccharidosis type II in a dog: Naturally occurring model of Hunter syndrome

M. J. Wilkerson, D. C. Lewis, S. L. Marks, D. J. Prieur

Research output: Contribution to journalArticle

26 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)230-233
Number of pages4
JournalVeterinary Pathology
Volume35
Issue number3
StatePublished - May 1998

Fingerprint

mucopolysaccharidosis
Mucopolysaccharidosis II
arylsulfatase
glycosaminoglycans
Dogs
dogs
Glycosaminoglycans
histiocytes
osteopenia
ataxia (disorder)
Iduronate Sulfatase
Labrador Retriever
thyroid gland
acids
root hairs
cerebellum
Mucopolysaccharidoses
Newfoundland and Labrador
nervous system
endothelial cells

Keywords

  • Dogs
  • Hunter syndrome
  • Iduronate-2-sulfatase deficiency
  • Lysosomal storage disease
  • Mucopolysaccharidosis type II
  • X-linked trait

ASJC Scopus subject areas

  • veterinary(all)

Cite this

Clinical and morphologic features of mucopolysaccharidosis type II in a dog : Naturally occurring model of Hunter syndrome. / Wilkerson, M. J.; Lewis, D. C.; Marks, S. L.; Prieur, D. J.

In: Veterinary Pathology, Vol. 35, No. 3, 05.1998, p. 230-233.

Research output: Contribution to journalArticle

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