Abstract
A case of Kearns-Shy syndrome in a 15-year-old boy was reported. When 9 years old, he had bilateral ptosis and ophtalmoplegia. When 11 years old, he had neural deafness and increased CSF protein was noted.When 15years old, ECG showed low voltage, right bundle branch block and first degree heart block. Retinitis pigmentosa and EEG changes were noted. Muscle biopsy showed no myopathic changes. Electron micro scopy revealed abnormal mitochondria in skeletal muscle and liver.
Progressive external ophthalmoplegia may as sociated with a various neurological and other abnormalites.Kearns and Sayre reported two patients who had the triad of external ophthal moplegia, retinitis pigmentosa and complete heart block.In addition other abnormalities were reported: neural deafness, EEG changes and in creased CSF protein.Many names were given to this syndrome, such as ophthalmoplegia plus, Kearns-Shy syndrome, oculoskeletal myopathy, or oculocraniosomatic neuromuscular disease.
The present case was reported as Kearns-Shy syndrome although myopathic changes were not noted.
It must be emphasized that the neurological features of the disorder are slowly progressive but sudden cardiac arrest mayoccur in association with the heart block.As the syndrome commonly begins in childhood, the eary diagnosis of this disease should be established by the pediatrician for the prediction of sudden cardiac arrest.
