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.
Keywords
leukodystrophy mitochondrial disease - leukoencephalopathy - neuroimaging
