Walking Difficulties and Brainstem Dysfunction: a Case Report of Adult Onset Leigh Syndrome

Abstract Leigh syndrome (LS) or subacute necrotizing encephalomyelopathy is a progressive, lethal, mitochondrial disease mostly presenting in childhood. We report 36-year-old African male to the Emergency Department with 6-month history of progressive dysarthria. Examination also showed oculomotor limitations for downgaze and convergence, mild right hemiparesis Babinski sign, absent lower limb tendon reflexes. He revealed he was walking difficulties since age 25. Family unremarkable. A brain magnetic resonance diffuse white matter lesions without enhancing around third ventricle, medulla oblongata, bilaterally caudate putamen. Polymerase-chain-reaction amplification genes, followed by direct sequencing, found 10191T>C variant related LS. To now, only 8 late-onset patients share same pathogenic variant.