Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene
2012
Abstract AIM: To investigate and characterise an
inborn errorof
metabolismin a dog with skeletal and ocular abnormalities. METHODS: A 2.5-year-old small male
Miniature Poodle-like dog was presented with gross joint laxity and bilateral corneal opacities. Clinical examination was augmented by routine haematology, serum chemistry, radiographs, pathology, enzymology and molecular genetic studies. Euthanasia was requested when the dog was 3 years of age because of progressively decreasing quality of life. RESULTS: Radiology revealed generalised epiphyseal dysplasia, malformed vertebral bodies, luxation/
subluxationof appendicular and
lumbosacral jointswith hypoplasia of the odontoid process and hyoid apparatus. These clinical and radiographic findings, together with a positive urinary Berry spot test for mucopolysaccharides, and metachromatic granules in leucocytes, were indicative of a
mucopolysaccharidosis(MPS), a
lysosomal storage disease. Histological lesions included vacuolation of stromal cells of t...
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