Yumiko Tamura

GM2 Gangliosidosis Variant 0 (Sandhoff‐Like Disease) in a Family of Toy Poodles

BACKGROUND GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disorder caused by deficiencies of acid β-hexosaminidase (Hex) A and Hex B because of an abnormality of the β-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene. OBJECTIVE To describe the clinical, pathological, biochemical, and magnetic resonance imaging (MRI) findings of Sandhoff-like disease identified in a family of Toy Poodles. ANIMALS Three red-haired Toy Poodles demonstrated clinical signs including motor disorders and tremor starting between 9 and 12 months of age. The animals finally died of neurological deterioration between 18 and 23 months of age. There were some lymphocytes with abnormal cytoplasmic vacuoles detected. METHODS Observational case study. RESULTS The common MRI finding was diffuse T2-hyperintensity of the subcortical white matter in the cerebrum. Bilateral T2-hyperintensity and T1-hypointensity in the nucleus caudatus, and atrophic findings of the cerebrum and cerebellum, were observed in a dog in the late stage. Histopathologically, swollen neurons with pale to eosinophilic granular materials in the cytoplasm were observed throughout the central nervous system. Biochemically, GM2 ganglioside had accumulated in the brain, and Hex A and Hex B were deficient in the brain and liver. Pedigree analysis demonstrated that the 3 affected dogs were from the same family line. CONCLUSIONS AND CLINICAL IMPORTANCE The Sandhoff-like disease observed in this family of Toy Poodles is the 2nd occurrence of the canine form of this disease and the 1st report of its identification in a family of dogs.

Long-term follow-up of surgical treatment of spinal anaplastic astrocytoma in a cat

A 10-year-old spayed female chinchilla feline presented with gradually progressive tetraparesis and cervical pain that had begun 1 month before the onset of a 4-day tetraplegic episode. Magnetic resonance imaging revealed a large elliptical intramedullary mass at the fourth cervical vertebrae. The mass was removed surgically and diagnosed as an anaplastic astrocytoma. No neurological abnormalities were observed 3 weeks postsurgery. Magnetic resonance at 3.5 year follow-up revealed neither mass regrowth nor recurrence of signs.

Head tilting elicited by Head turning in three Dogs with Hypoplastic Cerebellar Nodulus and Ventral Uvula

The nodulus and ventral uvula (NU) of the cerebellum play a major role in vestibular function in humans and experimental animals; however, there is almost no information about NU function in the veterinary clinical literature. In this report, we describe three canine cases diagnosed with presumptive NU hypoplasia. Of them, one adult dog presented with cervical intervertebral disk disease, and two juvenile dogs presented with signs of central vestibular disease. Interestingly, an unusual and possibly overlooked neurological sign that we called “positioning head tilt” was observed in these dogs. The dogs were able to turn freely in any direction at will. The head was in a level position when static or when the dog walked in a straight line. However, the head was tilted to the opposite side when the dog turned. Veterinary clinicians should be aware of this neurological sign that has not been reported previously, and its application in lesion localization in dogs.

THORACOLUMBAR INTRADURAL DISC HERNIATION IN EIGHT DOGS: CLINICAL, LOW‐FIELD MAGNETIC RESONANCE IMAGING, AND COMPUTED TOMOGRAPHIC MYELOGRAPHY FINDINGS

Intradural disc herniation is a rarely reported cause of neurologic deficits in dogs and few published studies have described comparative imaging characteristics. The purpose of this retrospective cross sectional study was to describe clinical and imaging findings in a group of dogs with confirmed thoracolumbar intradural disc herniation. Included dogs were referred to one of four clinics, had acute mono/paraparesis or paraplegia, had low field magnetic resonance imaging (MRI) and/or computed tomographic myelography, and were diagnosed with thoracolumbar intradural disc herniation during surgery. Eight dogs met inclusion criteria. The prevalence of thoracolumbar intradural disc herniation amongst the total population of dogs that developed a thoracolumbar intervertebral disc herniation and that were treated with a surgical procedure was 0.5%. Five dogs were examined using low-field MRI. Lesions that were suspected to be intervertebral disc herniations were observed; however, there were no specific findings indicating that the nucleus pulposus had penetrated into the subarachnoid space or into the spinal cord parenchyma. Thus, the dogs were misdiagnosed as having a conventional intervertebral disc herniation. An intradural extramedullary disc herniation (three cases) or intramedullary disc herniation (two cases) was confirmed during surgery. By using computed tomographic myelography (CTM) for the remaining three dogs, an intradural extramedullary mass surrounded by an accumulation of contrast medium was observed and confirmed during surgery. Findings from this small sample of eight dogs indicated that CTM may be more sensitive for diagnosing canine thoracolumbar intradural disc herniation than low-field MRI.