Peer-reviewed veterinary case report
MRI and spinal fluid changes over 2 years in a Toy Poodle
By Ito, D et al.·Published in Journal of veterinary internal medicine·2018·School of Veterinary Medicine, Japan·View original on PubMed →
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Original publication title: Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.
- Species:
- dog
Plain-English summary
A 13-month-old female Toy Poodle was brought in for worsening coordination problems and shaking of her head. She was diagnosed with Sandhoff's disease, a rare genetic disorder that affects the brain, confirmed by specific tests showing enzyme deficiencies and genetic mutations. Over two years, her condition worsened, with brain imaging revealing increasing damage to her brain's white matter and a decline in brain function. Unfortunately, despite ongoing monitoring and testing, her health continued to deteriorate, leading to severe loss of brain cells and myelin.
People also search for: Toy Poodle ataxia treatment · Sandhoff's disease in dogs · dog head tremors causes
Abstract
A 13-month-old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β-N-acetylhexosaminidase A and B activity in circulating leukocytes and identification of the homozygous mutation (HEXB: c.283delG). White matter in the cerebrum and cerebellum was hyperintense on T2-weighted and fluid-attenuated inversion recovery magnetic resonance images. Over the next 2 years, the white matter lesions expanded, and bilateral lesions appeared in the cerebellum and thalamus, associated with clinical deterioration. Magnetic resonance spectroscopy showed progressive decrease in brain N-acetylaspartate, and glycine-myo-inositol and lactate-alanine were increased in the terminal clinical stage. The concentrations of myelin basic protein and neuron specific enolase in cerebrospinal fluid were persistently increased. Imaging and spectroscopic appearance correlated with histopathological findings of severe myelin loss in cerebral and cerebellar white matter and destruction of the majority of cerebral and cerebellar neurons.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29478290/