[Leigh syndrome with facial abnormalities: a neurocristopathy].

A case of Leigh syndrome with respiratory chain defect and facial abnormalities is reported. Because most of the facial skeleton originates from the neural crests, which are strictly connected with the Central Nervous System development, the authors speculate that the facial abnormalities, observed in Leigh syndrome, are dependent on neural crest development disturbances (dysneurulation) and related to neurological features and that Leigh syndrome is a neurocristopathy. In case of facial abnormalities in infancy Leigh syndrome with respiratory chain defect should be investigated.