Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.
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.
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