Navegando por Palavras-chave "leukodystrophy mitochondrial disease"

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    NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy
    (Georg Thieme Verlag Kg, 2018) Sgobbi de Souza, Paulo Victor [UNIFESP]; Bortholin, Thiago [UNIFESP]; Burlin, Stenio [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]; de Rezende Pinto, Wladimir Bocca Vieira [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
    Genetic 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.