[Kearns-Sayre syndrome].

Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report

Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...

Kearns Sayre syndrome: neuroimaging findings in 8 cases

Kearns-Sayre syndrome--a case report.

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 novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome.

Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestati...

[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].

OBJECTIVE To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome. METHODS Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed. RESULTS The affected patient showed ptosis,...

[Cardiac involvement in Kearns-Sayre syndrome].

The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity ass...