Abstract
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
is a rare disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA
synthetase, DARS2. Clinical features include childhood or adolescent onset, slowly progressive ataxia,
spasticity, and dorsal column dysfunction with or without mild cognitive decline.
Magnetic resonance (MR) images show a characteristic leukoencephalopathy with multiple
long tract involvement. MR spectroscopy shows elevated levels of lactate. We present
strikingly different clinical courses and discrepant MR images findings for a pair
of brothers. It cannot be excluded that in the cases presented, the different clinical
outcome is related to a varicella infection in infancy in the younger brother.
Keywords
leukoencephalopathy - spinal cord - mitochondrial
