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

Turk J Pediatr. 2018;60(2):216-220x. doi: 10.24953/turkjped.2018.02.018.

Abstract

Çavuşoğlu D, Olgaç-Dündar N, Öztekin Ö, Özdemir TR, Arıcan P, Gençpınar P. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. Turk J Pediatr 2018; 60: 216-220. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imaging abnormalities (MRI) in the cerebral and cerebellar white matter and selective involvement of white matter tracts in the brain stem and spinal cord. LBSL is caused by mutations in the DARS2 gene which encodes the mitochondrial aspartyl-tRNA synthetase. Herein, we report the first pediatric case from Turkey with a typical MRI course of LBSL associated with a compound heterozygous mutation in DARS2 gene.

Keywords: DARS2; LBSL; MRI; leukoencephalopathy; mitochondrial.

Publication types

  • Case Reports

MeSH terms

  • Aspartate-tRNA Ligase / deficiency*
  • Aspartate-tRNA Ligase / genetics
  • Brain Stem / diagnostic imaging
  • Brain Stem / pathology*
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Child
  • Humans
  • Lactic Acid / blood*
  • Leukoencephalopathies / diagnosis*
  • Leukoencephalopathies / genetics
  • Magnetic Resonance Imaging / methods
  • Male
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mutation
  • Spinal Cord / diagnostic imaging
  • Spinal Cord / pathology*
  • Turkey
  • White Matter / pathology

Substances

  • Lactic Acid
  • Aspartate-tRNA Ligase
  • DARS2 protein, human

Supplementary concepts

  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation