Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog

Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis. Treatment with prednisone did not alleviate the signs. Neither ophthalmological nor orthopaedic examinations identified any abnormalities. Physiotherapy was initiated, including walking on an underwater treadmill. The gait impairment was more pronounced there, and cerebellar ataxia was suspected. A magnetic resonance imaging scan of the brain showed changes consistent with cerebellar abiotrophy. DNA testing identified the dog as a 28% American Staffordshire terrier mixed breed and confirmed late‐onset hereditary cerebellar ataxia due to ceroid lipofuscinosis NCL4A, specific in this breed. Management includes intensive physiotherapeutic care. Although the signs are slowly progressing, a good quality of life has been achieved for more than 3 years now.