Peer-reviewed veterinary case report
English Springer Spaniel puppy with inherited lysosomal storage
By Keller, C B & Lamarre, J·Published in Journal of the American Veterinary Medical Association·1992·Department of Clinical Studies, Canada·View original on PubMed →
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Original publication title: Inherited lysosomal storage disease in an English springer spaniel.
- Species:
- dog
Plain-English summary
A 17-month-old English Springer Spaniel was brought in because it was developing slowly and had worsening vision problems. Tests showed a serious genetic condition called alpha-L-fucosidosis, which affects how the body breaks down certain substances, leading to damage in the brain and other organs. Unfortunately, this condition is progressive and fatal, causing ongoing decline in both movement and mental abilities. The dog’s visual impairment was an unusual early sign of this disease.
People also search for: English Springer Spaniel vision problems · alpha-L-fucosidosis in dogs · inherited diseases in dogs
Abstract
Alpha-L-fucosidosis was diagnosed in a 17-month-old English Springer Spaniel with a history of slow development and progressive visual impairment. Lymphocytes and mononuclear cells with vacuolated cytoplasm were seen in a blood smear and in CSF, respectively. A severe deficiency of alpha-L-fucosidase activities in plasma and leukocytes was determined. Histologic examination revealed vacuolation of neurons, macrophages, and epithelial cells in most organ tissues. Canine fucosidosis is a progressive and fatal lysosomal storage disease in English Springer Spaniels. Affected dogs develop a neurologic disorder characterized by progressive motor and mental deterioration. Visual impairment is an unusual primary sign in a dog with alpha-L-fucosidosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/1559875/