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

Suiter, Emma; Baiker, Kerstin; Kaczmarska, Adriana; Christen, Matthias; Leeb, Tosso; Ororbia, Alejandro; Anselmi, Carlo; Minguez, Juan; Gutierrez-Quintana, Rodrigo (2024). Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy. (In Press). Veterinary radiology & ultrasound Wiley 10.1111/vru.13342

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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.

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