Respiratory failure in Leigh syndrome

Leigh syndrome,resulting from a disorder in the respiratory chain production of adenosine triphosphate within the mitochondria of affected cells,is characterized by various nonspecific clinical presentations including psychomotor regression,hypotonia,ataxia,bulbar and respiratory dysfunction. acute respiratory failure is a frequent symptom and a common cause of death. supportive therapies are especially essential in these periods. medical treatment has been focused on maximizing the oxidative or bioenergetic ability of the patient's mitochondria. in this case report,therapeutic success with carnitine,ketogenic diet and non invasive mechanical ventilation support in 22 years old leigh syndrome patient with respiratory failure was presented.