Kearns-Sayre syndrome, a mitochondrial myopathy: First diagnosed case in Oman

Abstract

Mitochondrial myopathy of the Kearns-Sayres Syndrome is described as a severe disorder which is progressive with CNS involvement, has metabolic acidotic crisis and is eventually fatal. The proportion of muscle fibres containing abnormal mitochondria maybe as low as 5-10% in cases presenting with severe clinical symptoms. There is no recognised treatment for this degenerative disease.An 11 year old Omani girl well until the age of 5 years, showed increasing symptoms of external ophthalmoplegia, ptosis, tubular vision and retinitis pigmentosa. CT scan showed atrophy of the brain. Biochemistry revealed an elevated creatinine kinase. A muscle biopsy was performed at the age of 11 years. The patient had no known family history.