Ali Abbas YILMAZ, Saban YALÇIN, Süer Gülseren KAYA, Mehmet ORAL, Melek TULUNAY

Respiratory failure in leigh syndrome

Leigh sendromu, etkilenen hücrenin mitokondrisinde, solunum zincirinin adenozin trifosfat üretiminde bozukluk sonucu ortaya çıkan, psikomotor regresyon, hipotoni, ataksi, bulber ve solunumsal disfonksiyonları da içeren pek çok nonspesifik klinik bulgu ile karakterize bir sendromdur. Akut solunum yetmezliği sık görülen semptomlardandır ve ölümün de yaygın nedenlerindendir. Bu dönemlerde destek tedavisi özellikle gereklidir. Medikal tedaviler hastanın mitokondrisinde oksidatif ya da biyoenerjitik kabiliyeti artırmaya yöneliktir. Bu olgu sunumunda solunum yetmezliği olan 22 yaşında Leigh sendromlu hastada, karnitin, ketojenik diyet ve noninvazif mekanik ventilasyon desteği ile gözlenen terapötik başarı sunuldu.

Leigh sendromunda solunum yetmezliği

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.

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