What Is Kearns-Sayre Syndrome?

The cause of mitochondrial encephalomyopathy is mainly mutations in mtDNA (a few are nDNA), such as point mutations, deletions, duplications, and loss of genes. Insufficient energy can maintain the normal physiological functions of cells, produce oxidative stress, induce cell death, and cause mitochondrial disease.

Kearns-Sayre syndrome

Causes of Kearns-Sayre syndrome

The cause of mitochondrial encephalomyopathy is mainly mutations in mtDNA (a few are nDNA), such as point mutations, deletions, duplications, and loss of genes. Insufficient energy can maintain the normal physiological functions of cells, produce oxidative stress, induce cell death, and cause mitochondrial disease.

Kearns-Sayre syndrome clinical manifestations

Kearns-Sayre syndrome is a type of mitochondrial encephalomyopathy. First reported by Kearns and Sayre in 1958, they performed an autopsy on a patient with pigmented retinitis, extraocular muscle paralysis, and complete cardiac block, and found that the patient's brain showed diffuse sponge-like degeneration. Constant clinical triads of this disease are: childhood onset, progressive ophthalmoplegia, and pigmented retinitis. Another triad is complete cardiac block, elevated cerebrospinal fluid protein (usually> 1 g / L), and brain syndrome. Most children with mental retardation may also have endocrine disorders caused by paroxysmal coma, short stature, hearing loss, diabetes, hypothyroidism and other hormone deficiency.

Kearns-Sayre syndrome laboratory test

The levels of lactic acid and pyruvate in blood and cerebrospinal fluid were significantly increased. Ruptured muscle fibers (RRF) appear in almost all patients. Cranial MRI can reveal white matter damage, and calcification of basal ganglia occurs in some cases, especially in those with hypoparathyroidism. Molecular biological examination can reveal multiple lack of respiratory chain enzyme activity. ^[1]