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

doi:10.1177/030098589803500311

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

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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 and D J Prieur

Veterinary pathology, Vol.35(3), pp.230-233

05/1998

DOI: https://doi.org/10.1177/030098589803500311

Handle:

https://hdl.handle.net/2376/113857

PMID: 9598589

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Abstract

Dog Diseases - metabolism

Purkinje Cells - metabolism

Spinal Cord - metabolism

Iduronate Sulfatase - metabolism

beta-N-Acetylhexosaminidases - metabolism

Cerebellum - metabolism

Male

Epithelium - ultrastructure

Hair Follicle - enzymology

Dog Diseases - pathology

Cerebellum - pathology

Mucopolysaccharidosis II - pathology

Animals

Mucopolysaccharidosis II - metabolism

Mucopolysaccharidosis II - veterinary

Spinal Cord - pathology

Dogs

Fatal Outcome

Female

Purkinje Cells - pathology

Bile Ducts - pathology

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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Title: Clinical and morphologic features of mucopolysaccharidosis type II in a dog: naturally occurring model of Hunter syndrome
Creators: M J Wilkerson - Department of Diagnostic Medicine/Pathobiology, College of Veterinary Medicine, Kansas State University, Manhattan 66506-5606, USA
D C Lewis
S L Marks
D J Prieur
Publication Details: Veterinary pathology, Vol.35(3), pp.230-233
Publisher: United States
Identifiers: 99900547987801842
Language: English
Resource Type: Journal article