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Updated: Dec 2, 2025
Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy
Published on: July 9, 2016
Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings
Fabrício Guimarães Gonçalves1, César Augusto Pinheiro Ferreira Alves1, Beth Heuer1
1From 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.
Abstract:
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. Online supplemental material is available for this article. ©RSNA, 2020.
