INTRODUCTION Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. CASE PRESENTATION We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac ...

A case of Kearns - Sayre Syndrome characterized by a triad of external ophthalmoplegia, retinal dystrophy and cardiomyopathy is discussed. Ocular examination and cardiologic screening of family members is requested.

A right ventricular endomyocardial biopsy specimen from a 30-year-old male with chromic progressive external ophthalmoplegia, retinal pigmentation and complete atrioventricular block (Kearns-Sayre syndrome) was examined in the electron microscope. There was a proliferation of mitochondria between the myofibrils and beneath the sarcolemma. Many of the mitochondria showed morphologic abnormalitie...

A 6-year-old boy was first evaluated because of short stature and hypocalcemia. His mother's pregnancy and delivery had been normal. Growth failure became progressively obvious; it was quantified at -3.5 standard deviations when the patient was 6 months old. Within 2 years, his developmental milestones declined, necessitating special education. When he was 5 years old, carpopedal spasm began; t...