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B. M. Çakmak

Kearns-Sayre syndrome

Kearns-Sayre syndrome

Schlüsselwörter Kearns Sayre syndrome; ICD 10: H49.8; Chronic progressive external ophthalmoplegia and myopathy, chronic progressive external ophthalmoplegia with ragged red fibers, CPEO with myopathy, CPEO with ragged red fibers, KSSS (Kearns Sayre Shy syndrome), mitochondrial cytopathy, occulocraniosomatic syndrome (absolute), ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, ophthalmoplegia plus syndrome
Keywords Kearns Sayre syndrome; ICD 10: H49.8; Chronic progressive external ophthalmoplegia and myopathy, chronic progressive external ophthalmoplegia with ragged red fibers, CPEO with myopathy, CPEO with ragged red fibers, KSSS (Kearns Sayre Shy syndrome), mitochondrial cytopathy, occulocraniosomatic syndrome (absolute), ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, ophthalmoplegia plus syndrome
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Summary

Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy caused by deletion of mitochondrial DNA. It is a disease with a wide continuum of phenotypes ranging from mild forms of ptosis to multisystemic disorders resulting in early death.

The original characterisation as presented by Kearns in 1958 comprised three core findings:

  1. Chronic progressive external ophthalmoplegia [CPEO] caused by advancing
    weakness of the levator palpebrae, orbicularis oculi and other extra-ocular     
  2. Atypical retinitis pigmentosa (“Salt-and-pepper” fundus of depigmentation, hyperpigmentation and chronic inflammation).
  3. Cardiac conduction disorders (AV-blockage, pre-excitation syndromes).

Disease onset is typically before the age of 20, and symptoms may appear as early as infancy. Other findings may include cerebellar ataxia, hearing loss, a wide range of neuro-endocrine (growth retardation) and gastrointestinal (intestinal dysmotility and gastroparesis) dysbalances, furthermore general muscle weakness including dilated cardiomyopathy and consecutive heart failure.

Deletion of mitochondrial DNA will impair oxidative/aerobic production of cellular energy and usually affect those organs more, which have intensive energy consumption such as the central nervous system or (cardiac) muscles. Defects are often distributed unevenly between cells, tissues and organs, and this “heteroplasmic pattern” of dysfunction explains for the variety of phenotypes. Diagnosis may be facilitated by genetic testing or muscle biopsy which can reveal so called “ragged red fibers” after trichrome staining.

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