From the Department of Radiology, Division of Neuroradiology (F.G.G., C.A.P.F.A., S.R.T., J.S.M.S., S.A., A.V.), Department of Pathology (A.N.V.), and Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (B.H., J.P., A.G.), Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104-4399; and Departments of Pediatrics (A.G.) and Radiology (S.A., A.V.), University of Pennsylvania Perelman School of Medicine (A.N.V.), Philadelphia, Pa.
Radiographics. 2020 Nov-Dec;40(7):2042-2067. doi: 10.1148/rg.2020200052.
Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors of metabolism in children, and they frequently affect the central nervous system. Neuroimaging findings of PMDs are variable, ranging from unremarkable and nonspecific to florid and highly suggestive. An overview of PMDs, including a synopsis of the basic genetic concepts, main clinical symptoms, and neuropathologic features, is presented. In addition, eight of the most common PMDs that have a characteristic imaging phenotype in children are reviewed in detail. . RSNA, 2020.
原发性线粒体疾病（PMDs）是儿童最常见的先天性代谢错误的原因，并且它们经常影响中枢神经系统。PMDs 的神经影像学表现多种多样，从无明显异常和非特异性到明显和高度提示性。本文概述了 PMDs，包括基本遗传概念、主要临床症状和神经病理学特征的概要。此外，还详细回顾了 8 种在儿童中具有特征性影像学表现的最常见 PMDs。
美国放射学会，2020 年。
