GM1 Gangliosidosis in a Shiba Inu Dog: MRI Characteristics

Abstract

An 8-month-old, 5.6 kg, intact female Shiba Inu dog was referred due to neurological symptoms such as ataxia (stumbling, swaying, falling, and dysmetria), seizures, and bilateral hindlimb muscle atrophy. These clinical signs had been progressively worsening over the previous month. On neurological examination, there was an absence of proprioceptive reflexes in the right hindlimb, upper motor neuron signs affecting both hindlimbs, absence of menace reflexes, weak pupillary light responses, and bilateral miosis. Findings from blood analysis, radiographs, and ultrasonography were all within normal limits. Magnetic resonance imaging (MRI) revealed diffuse T2-weighted and FLAIR hyperintensity in the white matter throughout the forebrain, slight widening of the cerebral sulci, and a hypoplastic corpus callosum. A genetic analysis subsequently established the diagnosis of GM1 gangliosidosis. Despite administration of symptomatic therapy, the neurological deficits, including seizures, progressively deteriorated, and the dog died 5 months after the initial assessment. Although GM1 gangliosidosis is an uncommon disorder in veterinary medicine, it should be contemplated in the differential diagnosis, particularly for Shiba Inu dogs presenting with progressive neurological symptoms and distinctive MRI characteristics.