P653 Swallowing disorder revealing leigh’s syndrome

Introduction Leigh’s syndrome is a sub-acute necrotizing encephalomyopathy involving brainstem involvement and basal ganglia. The symptoms are variable. The prognosis is rather unfortunate. Case report An infant aged 1 year 2 months consulted for acute dyspnea as part of a penetration syndrome. He has no background and his parents are first cousins. The history back to 2 hours before admission marked by the ingestion of a piece of meat bone and the installation of progressive worsening dyspnea. On examination, he was eutrophic. Its temperature was 38.5°C. He has respiratory distress. The chest radio showed a bronchial syndrome. Fibroscopy completed with esophagoscopy was without abnormalities. Neurologically, the infant was irritable and whiny. A lumbar puncture was negative. Brain imaging was without abnormalities. The evolution was marked by the installation of a hypotonia and an alteration of consciousness. The metabolic balance showed metabolic acidosis with hyperlactataemia, hyperammonemia and increased lactate/pyruvate ratio. The electroencephalogram showed paroxysmal discharges. The MR spectroscopy showed an involvement of brainstem, gray nuclei, cerebellum and marrow with a lactate peak confirming the diagnosis of Leigh’s syndrome. The evolution was quickly fatal due to a neurological distress chart. Conclusion There is currently no therapy for Leigh’s syndrome. The treatment is symptomatic and does not significantly alter the course of the disease.