NHLRC1 repeat expansion in two beagles with Lafora disease.

Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, 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 mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.

Addisonian crisis in a dog treated with phenobarbitone.

BACKGROUND: A 2-year-old intact female Irish Setter was presented with a 1-week history of anorexia, lethargy, vomiting and diarrhoea. Previous medical therapy included a 3-week treatment with phenobarbitone for suspected idiopathic epilepsy. In humans, phenobarbitone accelerates metabolism of both exogenous and endogenous steroids. CASE REPORT: Based on history, the physical examination showing abnormal mentation and laboratory abnormalities including azotaemia, hyponatraemia and hyperkalaemia, Addisonian crisis was suspected. An adrenocorticotropic hormone stimulation test was performed and confirmed the diagnosis. Treatment with intravenous fluid therapy, glucocorticoids and mineralocorticoids led to a resolution of clinical signs in 3 days. CONCLUSION: To the authors' current knowledge, this is the first reported case of Addisonian crisis in a dog most probably related to phenobarbitone administration. As Addisonian crisis can be life-threatening, clinicians should be aware of this adverse effect of phenobarbitone and use it cautiously in dogs with borderline hypoadrenocorticism.