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

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.