Pediatric Encephalopathy: Inherited Metabolic Disorders
Selima Siala1, Cesar Alves2, Carolina V Guimaraes3
1Division of Neuroradiology, Department of Radiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Abstract:
Inherited metabolic disorders (IMDs) comprise a diverse group of rare genetic conditions that frequently present with neurologic manifestations in infancy and childhood. Brain MR imaging remains a critical tool for suggesting the diagnosis or narrowing the differential diagnosis of such entities. IMDs may affect preferentially the white matter, gray matter or both. It may be present as delayed myelination, permanent hypomyelination or manifest as acute or subacute encephalopathies with inflammatory, necrotic or degenerative imaging patterns. This article will focus on imaging phenotype and the principle of selective vulnerability.
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