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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

ABSTRACT: 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.

SUBMITTER: de Souza PVS

PROVIDER: S-EPMC5809165 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

de Souza Paulo Victor Sgobbi PVS Bortholin Thiago T Burlin Stênio S Naylor Fernando George Monteiro FGM Pinto Wladimir Bocca Vieira de Rezende WBVR Oliveira Acary Souza Bulle ASB

Journal of pediatric genetics 20170824 1

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 c ...[more]

PMID: 29441221

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