Emma Suiter, Kerstin Baiker, Adriana Kaczmarska, Matthias Christen, Tosso Leeb, Alejandro Ororbia, Carlo Anselmi, Juan Minguez, Rodrigo Gutierrez-Quintana
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Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy.
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.
期刊介绍:
Veterinary Radiology & Ultrasound is a bimonthly, international, peer-reviewed, research journal devoted to the fields of veterinary diagnostic imaging and radiation oncology. Established in 1958, it is owned by the American College of Veterinary Radiology and is also the official journal for six affiliate veterinary organizations. Veterinary Radiology & Ultrasound is represented on the International Committee of Medical Journal Editors, World Association of Medical Editors, and Committee on Publication Ethics.
The mission of Veterinary Radiology & Ultrasound is to serve as a leading resource for high quality articles that advance scientific knowledge and standards of clinical practice in the areas of veterinary diagnostic radiology, computed tomography, magnetic resonance imaging, ultrasonography, nuclear imaging, radiation oncology, and interventional radiology. Manuscript types include original investigations, imaging diagnosis reports, review articles, editorials and letters to the Editor. Acceptance criteria include originality, significance, quality, reader interest, composition and adherence to author guidelines.