NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Página do item simplificado
dc.citation.issue1
dc.citation.volume7
dc.contributor.authorSgobbi de Souza, Paulo Victor [UNIFESP]
dc.contributor.authorBortholin, Thiago [UNIFESP]
dc.contributor.authorBurlin, Stenio [UNIFESP]
dc.contributor.authorMonteiro Naylor, Fernando George [UNIFESP]
dc.contributor.authorde Rezende Pinto, Wladimir Bocca Vieira [UNIFESP]
dc.contributor.authorBulle Oliveira, Acary Souza [UNIFESP]
dc.coverageStuttgart
dc.date.accessioned2020-07-08T13:09:36Z
dc.date.available2020-07-08T13:09:36Z
dc.date.issued2018
dc.description.abstractGenetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited leukoencephalopathies. We describe a 6-month-old Brazilian boy with a 2-month history of severe and rapidly progressive developmental and psychomotor regression and seizures. Neurological examination showed spastic tetraparesis and lethargy. Neuroimaging showed diffuse and symmetric cavitating cystic leukoencephalopathy. Whole-exome sequencing revealed compound heterozygous mutations in the NFU1 gene, providing definite genetic diagnosis of multiple mitochondrial dysfunction syndrome type 1. We report a rare presentation of early-onset cystic leukoencephalopathy in the context of multiple mitochondrial dysfunction syndrome type 1.en
dc.description.affiliationFed Univ Sao Paulo UNIFESP, Div Neuromuscular Dis, Dept Neurol & Neurosurg, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespFed Univ Sao Paulo UNIFESP, Div Neuromuscular Dis, Dept Neurol & Neurosurg, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent40-42
dc.identifierhttp://dx.doi.org/10.1055/s-0037-1606295
dc.identifier.citationJournal Of Pediatric Genetics. Stuttgart, v. 7, n. 1, p. 40-42, 2018.
dc.identifier.doi10.1055/s-0037-1606295
dc.identifier.issn2146-4596
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54089
dc.identifier.wosWOS:000424922100009
dc.language.isoeng
dc.publisherGeorg Thieme Verlag Kg
dc.relation.ispartofJournal Of Pediatric Genetics
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectleukodystrophy mitochondrial diseaseen
dc.subjectleukoencephalopathyen
dc.subjectneuroimagingen
dc.titleNFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathyen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Coleções
EPM - Artigos