LEIGHS SYNDROME

Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect i s unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-e oxidase or pyruvate dehydrogenase are described. The c linical picture usually consists of an altered breathing pattern, ocul omotor paralysis, other signs of cranial nerve dysfunction, ataxia, my oclonic jerks, nystagmus, generalized seizures, optic atrophy and demy elinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Re spiratory failure is the most frequent cause of death. Here we describ e two patients with adult onset Leigh's syndrome and we discuss the lo ngterm treatment strategies including vitamin B1 and CPAP mask.