kearns sayre syndrome: a rare cause of mitochondrial diabetes and hypogonadotropic hypogonadism

Kearns-sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. here we report an 18-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 2d echocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. hence, the diagnosis of kearns-sayre syndrome was made.