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Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.
Gonçalves, Fabrício Guimarães; Alves, César Augusto Pinheiro Ferreira; Heuer, Beth; Peterson, James; Viaene, Angela N; Reis Teixeira, Sara; Martín-Saavedra, Juan Sebastián; Andronikou, Savvas; Goldstein, Amy; Vossough, Arastoo.
Afiliación
  • Gonçalves FG; 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
  • Alves CAPF; 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
  • Heuer B; 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
  • Peterson J; 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
  • Viaene AN; 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
  • Reis Teixeira S; 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
  • Martín-Saavedra JS; 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
  • Andronikou S; 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
  • Goldstein A; 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
  • Vossough A; 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
Radiographics ; 40(7): 2042-2067, 2020.
Article en En | MEDLINE | ID: mdl-33136487
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Central / Enfermedades Mitocondriales / Neuroimagen Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Radiographics Año: 2020 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Central / Enfermedades Mitocondriales / Neuroimagen Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Radiographics Año: 2020 Tipo del documento: Article