Neuronal ceroid lipofuscinosis in a Border Collie: a case report

Abstract

Neuronal ceroid lipofuscinosis (NCL) is a group of inherited neurodegenerative lysosomal storage diseases in humans and animals and is characterized by apparently normal development followed by progressive deterioration in cognitive and motor functions, blindness, seizures, respiratory impairment, and premature death in most cases [1,2]. The diagnosis of NCL can be established through clinical signs, magnetic resonance imaging (MRI), histopathological findings, and gene sequencing used to probe mutated genes, including CLN10, CLN5, CLN12 and CLN8 [3,4]. However, gene sequencing is not generally conducted in veterinary medicine due to few studies on NCL diagnosis. Massive lysosomal accumulation in neurons and neuronal loss are reported to be representative pathological features of NCL [5]. Reported MRI lesions of the NCL include cerebral and cerebellar atrophy, mild hyperintensity of the cerebral white matter, cortical thinning, and thalami hypointensity on T2-weighted images [6]. Although several treatments, including enzyme replacement, stem cell and gene therapies, and pharmacological treatment, have been used to treat dogs with NCL, their prognosis is usually poor [7,8].A 2-year-old spayed female Border Collie presented with loss of vision, as evidenced by her bumping into walls, and progressive behavioral changes including aggression toward the owner. Decreased response to food from the age of 5 months and descending stairs incorrectly from the age of 1 year were identified through history taking. In addition, aggressive behavior of trying to bite the owner