Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism

Abstract

Kearns-Sayre syndrome is a rare mitochondrial disease that presents before theage of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathyassociated with endocrine and cardiac conduction abnormalities. Here we report an18-year-old female presenting with fever, cough, secondary amenorrhea, diabetes,ptosis, external ophthalmople gia, and ataxia . Fundosc opy revealed pigmen tary retinopathy. ECG showed intraventricular conduction abnormalities, and 2Dechocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. Hence, the diagnosis of Kearns-Sayre syndrome was made.