NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.
Ontology highlight
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
ACCESS DATA