Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings
Fabrício Guimarães Gonçalves, Cesar Alves, Beth Heuer, James T. Peterson, Angela N. Viaene, Sara Reis Teixeira, Juan Sebastián Martín-Saavedra, Savvas Andronikou, Amy Goldstein, Arastoo Vossough
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