Kearns-Sayer syndrome: Difference between revisions

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'''Synonyms:''' Kearns Syndrome,  Kearn-Sayre Mitochondrial Cytopathy,  Kearns' Syndrome,  Kearns-Sayre-Shy-Daroff Syndrome
'''Synonyms:''' Kearns Syndrome,  Kearn-Sayre Mitochondrial Cytopathy,  Kearns' Syndrome,  Kearns-Sayre-Shy-Daroff Syndrome


Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of:  
'''Kearns-Sayer syndrome''' is a mitochondrial disorder featuring the triad of: <ref>Adams et al., Principles of Neurology, 6th ed, p984</ref>


chronic progressive
* chronic progressive external ophthalmoplegia
* Cardiomyopathies with conduction block
* Retinitis pigmentosa


EXTERNAL OPHTHALMOPLEGIA
Disease onset is in the first or second decade.


Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.')" onmouseout="HideBulle()" class="menudesc">external ophthalmoplegia,
* Elevated CSF protein
cardiomyopathy (
* sensorineural deafness  
 
* seizures
CARDIOMYOPATHIES
* pyramidal signs may also be present
 
* Ragged-red fibers are found on muscle biopsy.
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).')" onmouseout="HideBulle()" class="menudesc">CARDIOMYOPATHIES) with conduction block,
RETINITIS PIGMENTOSA
 
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.')" onmouseout="HideBulle()" class="menudesc">RETINITIS PIGMENTOSA.
 
Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

Revision as of 07:52, 9 January 2009

Synonyms: Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome

Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of: [1]

  • chronic progressive external ophthalmoplegia
  • Cardiomyopathies with conduction block
  • Retinitis pigmentosa

Disease onset is in the first or second decade.

  • Elevated CSF protein
  • sensorineural deafness
  • seizures
  • pyramidal signs may also be present
  • Ragged-red fibers are found on muscle biopsy.
  1. ↑ Adams et al., Principles of Neurology, 6th ed, p984
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