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Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)

  • Background: LBSL is an autosomal recessive disorder caused by mutation in the DARS2 gene (mitochondrial aspartyl tRNA synthase).
  • Clinical Presentation: During childhood or adolescence, patients present with slowly progressive spasticity, cerebellar ataxia, and abnormal vibration/proprioception. Cognition is only mildly affected. Reduced consciousness, neurologic deterioration, and fever may be trigged by minor head trauma.
  • Key Diagnostic Features: Diagnosis is made by characteristic clinical presentation and MRI abnormalities,* and confirmed by genetic testing. MRS and CSF may show increased lactate, but this is not mandatory for diagnosis. [* See Appendix slide for more information]
  • DDx: Fulfillment of the MRI diagnostic criteria is essentially pathognomonic for LBSL
  • Treatment: There is currently no treatment. Management is based on symptom control and physical rehabilitation.
October 19, 2015

A 6-year-old girl with normal development until new onset of slowly progressive gait difficulty for 6 months. Neurologic examination showed spasticity, hyperreflexia, bilateral Babinsky sign, mild cerebellar ataxia, and abnormal vibration and proprioception. CSF examination (including lactate) normal.

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