This 6-year-old girl was admitted with insufficient involuntary breathing and generalized hypotonia. T2-weighted MR images showed bilateral symmetrical tubular hyperintense lesions in the medio-caudal part of the medulla oblongata that correlated well with demyelination and gliosis in the regions of the reticular formation and the nucleus solitarius found at autopsy. The typical lesions of Leigh's disease in the basal ganglia were not present, which made the diagnosis uncertain prior to the histopathological findings. MRI was very helpful in deciding on further management of the patient.
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Biallelic variants in the cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.
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Eye Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
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