Mitochondrial myopathy case report and review of literature

This is to report a case of a 17- year- old female, who presented with bilateral ptosis since childhood, and progressive ophthalmoplegia for the past six 6 years associated with retinal pigmentation. She has short stature and primary amenorrhea. The clinical features and other investigations including C.S.F. examination, electromyography and muscle biopsy, were in keeping with mitochondrial myopathy; Kearne - Sayre Syndrome [KSS]