Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) Based on Typical MRI and MRS Findings: A Case Report

Abstract

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive disorder that has been known in recent years. Clinically, patients usually present slowly progressive symptoms of pyramidal, cerebellar and dorsal column dysfunction. In 2012 magnetic resonance imaging (MRI) criteria were proposed for diagnosing these patients based on characteristic MRI abnormalities in selective areas of the brain and spinal cord. These imaging features help clinicians to distinguish it from other white matter diseases. Here we report a case diagnosed based on characteristic MRI abnormalities in selective areas and high lactate in the magnetic resonance spectroscopy (MRS).

Keywords

• brain stem
• leukodystrophy
• leukoencephalopathies
• spinal cord
• white matter