title: Clinical, pathological, and neuroimaging analyses of two cases of Leigh syndrome in a Chinese family.
abstract: In this study, the authors examined the clinical manifestations, skeletal muscle pathological characteristics, and neuroimaging results of 2 cases of Leigh syndrome in a Chinese family. The 2 patients presented with general weakness, and 1 of them presented with an impairment of vision. Skeletal muscle biopsies showed a deficiency in cytochrome c oxidase levels. Brain magnetic resonance imaging showed increased T1 and T2 signal intensities in the centrum ovale and dentate nucleus. Diffusion-weighted imaging showed a high-intensity signal. Magnetic resonance spectroscopy showed elevated levels of lactic acid in lesions. The examination of 1 patient at disease onset and during disease remission showed that the lesions detected by magnetic resonance imaging and diffusion-weighted imaging, and the peak for lactic acid detected by magnetic resonance spectroscopy, decreased during remission. These data suggest that changes in the imaging results of patients with Leigh syndrome correlate with disease course and pathogenetic condition.
authors.affiliation: Departments of Cadre Ward, Third Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Taoran
authors.initials: T
authors.lastname: Jin
authors.affiliation: Departments of Neuromuscular Disease, Key Laboratory of Orthopedic Biomechanics of Hebei Province, Third Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Hongrui
authors.initials: H
authors.lastname: Shen
authors.affiliation: Departments of Neuromuscular Disease, Key Laboratory of Orthopedic Biomechanics of Hebei Province, Third Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Zhao
authors.affiliation: Departments of Neuromuscular Disease, Key Laboratory of Orthopedic Biomechanics of Hebei Province, Third Hospital of Hebei Medical University, Shijiazhuang, China jinghu5510@163.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Hu
mesh_terms: D044466:Asian People; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D002681:China; D038524:Diffusion Magnetic Resonance Imaging; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology
chemical_list: D003576:Electron Transport Complex IV
keywords: Leigh syndrome; mitochondriopathy; muscle biopsy; neuroimaging