Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy

Vet Radiol Ultrasound. 2024 Sep;65(5):463-468. doi: 10.1111/vru.13342. Epub 2024 May 6.

Abstract

A 9-month-old male Bullmastiff cross dog was presented with a history of progressive proprioceptive ataxia and behavior changes. Neuroanatomical localization was multifocal with forebrain and vestibulo-cerebellum involvement. MRI identified moderate diffuse cerebral sulci widening, dilation of the ventricular system, and rounded, well-defined, bilaterally symmetrical T2W, FLAIR, and T2* hyperintense intra-axial lesions affecting the olivary nuclei. Histopathological examination was indicative of a primary mitochondrial disorder. This was confirmed following genetic analysis which identified mitochondrial fission encephalopathy with a homozygous frameshift variant in the MFF gene. This case report documents diagnostic imaging and histopathological findings not previously reported in dogs affected with mitochondrial fission encephalopathy, suggesting a different selective regional vulnerability of the neurons.

Keywords: canine; hypertrophy; neurodegenerative; olivary nuclei; precision medicine.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Brain / diagnostic imaging
  • Brain / pathology
  • Dog Diseases* / diagnostic imaging
  • Dog Diseases* / pathology
  • Dogs
  • Magnetic Resonance Imaging* / veterinary
  • Male
  • Mitochondrial Encephalomyopathies / diagnostic imaging
  • Mitochondrial Encephalomyopathies / pathology
  • Mitochondrial Encephalomyopathies / veterinary

Supplementary concepts

  • Mitochondrial encephalopathy