Kearns-Sayre Syndrome

The mitochondrial encephalomyopathies caused by a disorder in the mitochondrial DNA structure are rare multisystem disease. MERRF (myoclonic epilepsi, ragged-red fibers), MELAS (mitochondrial ensefalomyopathy, lactic acidosis, stroke like episoddes) and KSS (Kearns-Sayre Syndrome) are the well known mitochondrial encephalomyopathies. The criteria for KSS include a triad of (1) onset before age 20 year, (2) progressive external ophthalmoplegia, and (3) pigmentary retinopathy. There must be also be at least one of the following: heart block, cerebellar syndrome, or a cerebrospinal fluid protein above 100 mg/dl. Other nonspecific but comman features include demantia, sensorineural hearing loss, and endocrine abnormalities, including short stature, diabetes mellitus, and hypoparathyroidism. The prognosis is poor despite plecement of pace-maker. Ragged-red fibers are found in muscle biopsies. Almost all patients have mtDNA deletions.

Kearns-Sayre Sendromu