Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings
AuthorGonçalves, Fabrício Guimarães
Pinheiro, César Augusto
Viaene, Angela N.
Teixeira, Sara Reis
Martín-Saavedra, Juan Sebastián
Permanent link to this recordhttp://hdl.handle.net/20.500.12613/7138
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AbstractPrimary 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.
CitationFabrício Guimarães Gonçalves, César Augusto Pinheiro Ferreira Alves, Beth Heuer, James Peterson, Angela N. Viaene, Sara Reis Teixeira, Juan Sebastián Martín-Saavedra, Savvas Andronikou, Amy Goldstein, and Arastoo Vossough. Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings. RadioGraphics 2020 40:7, 2042-2067
Citation to related workRadiological Society of North America
Has partRadioGraphics, Vol. 40, No. 7
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