Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Normal Lactate: Case Report

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare, autosomal recessive disorder (1-3). Signal abnormalities in the cerebral white matter, medulla oblongata, lateral corticospinal tracts and dorsal columns of the spinal cord are the major diagnostic criteria of LBSL (4). Signal abnormalities in the cerebellar white matter, superior and inferior cerebellar peduncles, trigeminal tracts, splenium of the corpus callosum and posterior limb of the internal capsule are the supportive criteria of LBSL (4). On magnetic resonance spectroscopy (MRS) of the abnormal white matter there are usually increased lactate levels. (4). In this case report, we describe a patient with LBSL and normal lactate levels on MRS. Case Report