Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation has a spectrum of presentations ranging from a severe infantile-onset disorder to a mild adult-onset disease.
On imaging patients initially have increased T2 signal in the periventricular white matter with involvement of the corpus callosum (posterior > anterior). There is increased T2 signal of the superior and inferior cerebellar peduncles, pyramidal tracts, medial lemnisci, anterior spinocerebellar tracts,and intrapontine trajectories of the trigeminal (CN V) nerves. The middle cerebellar peduncles show increased T2 signal later in the disease. Spinal cord imaging shows increased T2 signal of dorsal columns and lateral corticospinal tracts. MRS shows a decrease in NAA with an increase in myo-inositol and lactate.