Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) A Case With Long-term Follow-up

Yazici Gencdal I., DİNÇER A., Obuz O., Yapici Z.

NEUROLOGIST, vol.25, no.5, pp.144-147, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1097/nrl.0000000000000286
  • Journal Name: NEUROLOGIST
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.144-147
  • Keywords: LBSL, leukoencephalopathy, lactate, MRI
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

Introduction: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is caused by a recessive mutation in the DARS2 gene and can be recognized by specific magnetic resonance imaging patterns. Case Report: A girl who developed leg tremors at age 4 years was diagnosed at age 17 years with LBSL -after evolution of ataxia and sensory loss. Examination at age 29 revealed mild spastic gait, ataxia, and sensory loss, and she did not require assistance to walk. Conclusion: This report illustrates the clinical and magnetic resonance imaging characteristics of a slowly progressive long-term course of childhood-onset LBSL.