Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.

ABSTRACT:

Background

LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies from severe infantile to chronic, slowly progressive neuronal deterioration in adolescents or adults. Most individuals with LBSL are compound heterozygous for one splicing defect in an intron 2 mutational hotspot and a second defect that could be a missense, non-sense, or splice site mutation or deletion resulting in decreased expression of the full-length protein.

Aim

To present a new family with two affected members with LBSL and report a novel DARS2 mutation.

Results

An 8-year-old boy (Patient 1) was referred

SUBMITTER: Huang WL 

PROVIDER: S-EPMC10731372 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature