Walking difficulties and brainstem dysfunction: a case report of adult onset Leigh syndrome

Abstract Introduction: Leigh syndrome a progressive, lethal, mitochondrial disease. Case Presentation: We report the case of an adult man in his 40s presenting to the Emergency Department showing: dysarthria, oculomotor limitations for downgaze and convergence, mild right hemiparesis with Babinski sign and absent lower limb tendon reflexes. He revealed about walking difficulties since the age of 20-25. Family history was unremarkable. A brain magnetic resonance showed diffuse white matter lesions involving the area around the third ventricle, the medulla oblongata, and the bilateral caudate and putamen without contrast enhancement. Conclusions: Polymerase-chain-reaction amplification of the mitochondrial genes, followed by direct sequencing, found a 10191T>C variant related to Leigh syndrome. Leigh syndrome mostly occurring mostly in childhood, there are only other 8 late-onset cases described sharing the same pathogenic variant. LS or subacute necrotizing encephalomyelopathy is a progressive, lethal, mitochondrial disease mostly occurring in childhood. Only other 8 late-onset cases share the same pathogenic variant, i.e. 10191T>C.