Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Presentation
The long history of gait unsteadiness, clumsiness and frequent falls in childhood, decreased proprioceptive sensitivity more prominent on legs.
Patient Data
There are multiple symmetric and multiform foci of T2 hyperintense signal involving the cerebral paraventricular white matter with sparing of subcortical U-fibers, dorsal columns and lateral corticospinal tracts of the spinal cord, medulla oblongata pyramids, trigeminal nerve nuclei, mesencephalic trigeminal tracts, anterior spinocerebellar tracts in the medulla oblongata, and cerebellar white matter.
There is moderate atrophy in the dorsal part of the spinal cord.
C4-C6 degenerative spine changes are also noted.
Case Discussion
Classic findings of the rare inherited autosomal recessive leukodystrophy leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.
Unable to process the form. Check for errors and try again.