A four-month old female Rottweiler was presented for a ten-week history of progressive dyspnoea, spinocerebellar ataxia and tetraparesis that had been unresponsive to empirical treatment. Neurological examination revealed obtundation, an ambulatory tetraparesis (worse in the hindlimbs) with spinocerebellar ataxia, head titubations, miotic pupils, positional vertical nystagmus, an intermittent ventrolateral strabismus and delayed postural reactions in all four limbs. General physical examination revealed inspiratory stridor. Signs were consistent with multifocal neurological disease with involvement of the brainstem, cerebellum, spinal cord and peripheral nerves. Further diagnostics included an MRI, cerebrospinal fluid analysis, and blood work, which were all unremarkable. The multifocal neurological findings in combination with normal ancillary tests in a young rottweiler were suggestive of a degenerative disease, with the top differential being neuronal vacuolation and spinocerebellar degeneration (NVSCD). Due to the grave prognosis and rapid progression of clinical signs, euthanasia was elected. A complete postmortem examination was performed, which revealed multifocal intracytoplasmic neuronal vacuolisation with axonal degeneration throughout the CNS; severe, generalised bilateral myocyte atrophy and degeneration of the cricoarytenoideus dorsalis (CAD) muscles; and moderate, multifocal, bilateral demyelination of the laryngeal nerves. The histological lesions were pathognomonic for NVSCD, thereby confirming the diagnosis.
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Contributors MS was the neurology resident in charge of this case and was responsible for any and all clinical decisions and test result interpretation. ACC (a student at the time of interest) was in charge of patient care. AEJC was the pathology resident responsible for gross pathological and histopathological examination and interpretation. ACC prepared the manuscript draft with important intellectual input from MS and AEJC. Additionally, the results of the urine metabolic screening panel support the possibility of a metabolic aetiology. The moderate aminoaciduria was more severe than expected in a young dog. The positive MPS spot test could either be due to the young age of the dog or could relate to a bone developmental disease or a mucopolysaccharidosis.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement No additional data are available.
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