Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Presentation
Gait ataxia, loss of proprioception (more in the legs). The slow progression of these symptoms since childhood. No intellectual disability.
Patient Data
There are bilateral multiple confluent cerebral white matter lesions in paraventricular regions, as well as the posterior limb of the internal capsules, pyramids, dorsal spinal cord columns, and lateral corticospinal tracts involvement. Additionally, there are the intraparenchymal trajectories of the trigeminal nerves and cerebellar white matter involvement. The some of lesions have a restricted diffusion pattern on DWI. All of these changes are symmetric. Subcortical U-fibers and corpus callosum are intact. Also, there is prominent atrophy of the spinal cord (predominantly of the dorsal columns).
Features are consistent with LBSL.
Case Discussion
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare disease from a group of leukodystrophies with autosomal recessive inheritance. This is a classic MRI presentation of LBSL with the cerebral white matter, the spinal cord (dorsal columns and lateral corticospinal tracts), and the pyramids involvement.