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The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Dilek Çavuşoğlu1, Nihal Olgaç-Dündar1, Özgür Öztekin2

  • 1Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, İzmir, Turkey.

The Turkish Journal of Pediatrics
|October 17, 2018
PubMed

Insights

This study reports the first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) in Turkey. The patient presented with typical MRI findings and a novel DARS2 gene mutation, advancing understanding of this rare genetic disorder.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive disorder.
  • It is characterized by progressive neurological dysfunction affecting cerebellar, pyramidal, and dorsal column pathways.
  • Diagnosis relies on characteristic MRI findings and genetic analysis.

Keywords:
DARS2LBSLMRIleukoencephalopathymitochondrial

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