Neuronal ceroid lipofuscinosis in a mixed breed dog

Abstract

A 1.5 year old female spayed mixed breed dog was transferred to the Cornell University Hospital for Animals’ Neurology Service on November 21st, 2011 for further evaluation of abnormal behavioral changes and seizures. Based on the signalment, history, clinical signs, diagnostic procedures, advanced imaging and DNA-testing, the patient was diagnosed with a lysosomal storage disease called neuronal ceroid lipofuscinosis (NCL). Four months after the initial presentation, due to the rapid progression of the disease, the dog was humanely euthanized NCL is a genetic neurodegenerative disease shown to affect dogs, humans and other animals. Mutations in certain genes have been identified and linked to specific dog breeds. A blood sample can be used for a screening test in attempt to eliminate and prevent breeding the carriers and thus decrease the incidence of the disease.