Peer-reviewed veterinary case report
Cat with walking problems and swollen belly
By Gitzelmann, R et al.·Published in Veterinary pathology·1994·Department of Pediatrics·View original on PubMed →
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Original publication title: Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.
- Species:
- cat
Plain-English summary
A 12-14 week old male cat was brought in because he was having trouble walking and had a swollen belly. The vet found signs of a rare genetic disorder called mucopolysaccharidosis VII, which affects how the body breaks down certain sugars. Tests showed that the cat's cells were not functioning properly, leading to the buildup of harmful substances in his body. Unfortunately, this condition is serious and there is no cure, but understanding it can help with managing symptoms and care.
People also search for: kitten walking difficulties · cat swollen belly · mucopolysaccharidosis in cats · cat genetic disorders
Abstract
A male cat 12-14 weeks old had walking difficulties and an enlarged abdomen. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. Cultured fibroblasts incorporated 35SO4 into mucopolysaccharides more actively than did fibroblasts of a feline control, and degradation was far inferior. Activity of beta-glucuronidase was absent in leukocytes and markedly reduced in fibroblasts, thus establishing the diagnosis of mucopolysaccharidosis VII, a disorder previously described in humans, dogs, and mice. Light microscopic examination revealed foam cells in virtually all organs examined, and electron microscopic examination showed pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphingolipids in the form of zebra bodies were seen in ganglion cells of the central nervous system and in smooth muscle cells of blood vessels. This case represents another animal model of mucopolysaccharidosis VII with the full disease characteristics known in human patients.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/7941232/