Mucopolysaccharidosis VI in a European Shorthair cat: Neurological presentation, computed tomography findings and genetic investigation.

The present case report describes the clinical signs of a 10-month-old, intact female, Domestic Shorthair cat presented with a history of chronic progressive difficulty to walk with the four limbs. The physical and neurological examinations revealed skeletal deformities, corneal opacity and a severe spastic non-ambulatory tetraparesis. Complete blood count and biochemistry profiles were unremarkable. Diffuse bone rarefaction, hyperostosis and an apparent fusion of the vertebral bodies were observed on spinal radiographs. A non-contrast computed tomography (CT) exam of the whole body of the patient was performed. Based on the medical history, clinical findings, laboratory analysis, spinal radiographs and CT findings, a lysosomal storage disorder was suspected. Genetic testing for mucopolysaccharidosis VI and VII revealed a genetic mutation, ARSB variant L476P, confirming the diagnosis of mucopolysaccharidosis type VI.

Clinical, Electrodiagnostic Findings and Quality of Life of Dogs and Cats with Brachial Plexus Injury.

Brachial plexus injury (BPI) represents a common consequence of road traffic accidents in humans and small animals. In humans, neuropathic pain is a common symptom after BPI. The aim of the study was to describe the clinical signs, the electrodiagnostic findings, the outcome and the quality of life (QoL) of a cohort of dogs and cats with BPI. Clinical records of 40 dogs and 26 cats with BPI were retrospectively reviewed. Specific attention was put on the evaluation of electrodiagnostic findings (35/40 dogs; 14/26 cats) and telephonic interview results (26/40 dogs; 18/26 cats). The most common neurological condition was the inability to bear weight and sensory deficits on the affected limb. Radial and ulnar motor nerve conduction studies (MNCSs) were absent respectively in 47% (radial) and 62% (ulnar) of dogs and 57% (radial) and 57% (ulnar) of cats. The absence of radial (p = 0.003) and ulnar (p = 0.007) MNCSs in dogs and ulnar MNCSs in cats (p = 0.02) was significantly associated to the amputation of the affected limb. The owners described signs of pain/discomfort in 73% of dogs and 56% of cats. This is the first report suggesting that neuropathic pain/discomfort should be adequately considered in order to improve the QoL.