Peer-reviewed veterinary case report
Beta-mannosidosis causing seizures and stiffness in German Shepherd
By Jolly, Robert D et al.·Published in Veterinary pathology·2019·1 School of Veterinary Science·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: β-Mannosidosis in German Shepherd Dogs.
- Species:
- dog
Plain-English summary
Three German Shepherd puppies from the same litter were brought in because they were not growing normally and showed signs of stiffness, reluctance to move, and deafness. They also experienced intermittent seizures and coordination issues. Tests revealed a serious neurological condition called β-mannosidosis, a type of lysosomal storage disease, which affects how their bodies process certain substances. Unfortunately, this condition is genetic and there is no known cure, so the puppies will require supportive care to manage their symptoms.
People also search for: German Shepherd puppy seizures · neurological disease in dogs · β-mannosidosis in dogs
Abstract
A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects. Histopathology showed severe vacuolation of neurons, astrocytes in nervous tissue, renal tubular epithelial cells, and macrophages in nervous tissue, spleen, and liver. Vacuoles appeared empty with no storage material stained by periodic acid-Schiff (PAS) or Sudan black stains, leading to a diagnosis of a lysosomal storage disease and in particular an oligosaccharidosis. Biochemical and genomic studies showed that this was β-mannosidosis, not previously diagnosed in dogs. A c.560T>A transition in exon 4 of thegene was found, which segregated in these and other family members in a manner consistent with it being the causative mutation of an autosomal recessive disease. This mutation led to substitution of isoleucine to asparagine at position 187 of the 885 amino acid enzyme, a change expected to have functional significance.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30983534/