Lafora disease is a fatal genetic disorder with neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by genetic variants in the EPM2A or NHLRC1 genes. There is a known sequence variant in Miniature Wirehaired Dachshunds but not in different dog breeds, including in Beagle dogs in which the disease is relatively commonly reported. This case report describes the causative defect in two affected Beagles, namely the same massive expansion as in Miniature Wirehaired Dachshunds of a 12-nucleotide repeat sequence that is unique to the canine NHLRC1 gene. This is the first sequence variant described in Beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.
Canine babesiosis is a common cause of thrombocytopaenia but there are few formal studies that have investigated this haematological finding in dogs. Thrombocyte counts from full blood counts were retrospectively analysed for the years 1996-2002. Thrombocyte counts and mean platelet volumes of dogs with babesiosis were compared with those of dogs, seen over the same period of time, that did not have babesiosis. There were 1162 cases in the Babesiosis group and 10 808 in the Non-babesiosis group.Afrequency distribution of the thrombocyte counts showed a trimodal distribution in the Non-babesiosis group compared to a bimodal distribution in the Babesiosis group, with a strong positive skewness. The modes for the frequency distributions were 10, 40, 300 and 10, 35 × 109/l thrombocytes, respectively. The median thrombocyte count in the Babesiosis group was 14 × 109/l and 282 × 109/l in the Non-babesiosis group. There was a statistically significant difference in the median thrombocyte count between the Babesiosis group and the Non-babesiosis group. In the Babesiosis group, 99 %of the thrombocyte counts were below the lower reference range value (250 × 109/l ) and 62 % of thrombocyte counts were below 25 × 109/l . The mean platelet volume (11.1 fl) for the Babesiosis group was greater than the reference range (6-10 fl) and significantly larger than in the Non-babesiosis group (median 9.7 fl). Thrombocyte counts greater than 110 and 250×109/l had a predictive value that the dog was not suffering from babesiosis of 99.3 % and 99.8 %, respectively. There was a statistically significant difference between the thrombocyte counts of dogs with babesiosis when grouped by parasitaemia scores. The mechanisms of the thrombocytopaenia are not fully understood, and multiple mechanisms, including concomitant thrombocytopaeniainducing diseases such as ehrlichiosis, probably result in this haematological finding. Babesiosis in the South African canine population is associated with thrombocytopaenia in nearly all patients and is severe in the majority of them. In the absence of thrombocytopaenia, babesiosis is an unlikely diagnosis.
This case report shows that Mycobacterium avium subsp. paratuberculosis (MAP) infection can cause clinical disease in domestic dogs, and should be considered as a differential diagnosis for gastrointestinal inflammatory conditions. A male dachshund presented with lethargy and pain. Enlarged mesenteric lymph nodes were found on abdominal ultrasound examination. Cytological examination of lymph node aspirates was consistent with granulomatous inflammation, which was culture-confirmed as MAP. Although we were unable to confirm the source of infection, the dog’s history included exposure to sheep in the Western Cape.
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