The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey

Özet

Leukoencephalopathy with brainstem and spinal cord involvement and lactateelevation (LBSL) is defined as an autosomal recessive inheritance disordercharacterized by slowly progressive cerebellar, pyramidal and dorsal columndysfunction. The diagnosis is based on specific magnetic resonance imagingabnormalities (MRI) in the cerebral and cerebellar white matter and selectiveinvolvement of white matter tracts in the brain stem and spinal cord. LBSLis caused by mutations in the DARS2 gene which encodes the mitochondrialaspartyl-tRNA synthetase. Herein, we report the first pediatric case fromTurkey with a typical MRI course of LBSL associated with a compoundheterozygous mutation in DARS2 gene.