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The Indian Journal of Pediatrics

, Volume 79, Issue 5, pp 650–654 | Cite as

RETRACTED ARTICLE: Kearns Sayre Syndrome—Case Report with Review of Literature

  • Meghana Phadke
  • M. R. LokeshwarEmail author
  • Shraddha Bhutada
  • Chandralekha Tampi
  • Renu Saxena
  • Sudha Kohli
  • K. N. Shah
Special Article

Abstract

Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age of twenty. Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the form of dysarthria and nasal regurgitation and bilateral facial weakness. Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features. Kearns Sayre Syndrome occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which is usually not inherited but occurs spontaneously, probably at the germ-cell level or very early in embryonic development. No disease-modifying therapy is available for Kearns-Sayre syndrome (KSS). Management is supportive vigilance for detection of associated problems. In the future, potential treatment in patients with Kearns-Sayre syndrome may attempt to inhibit mutant mtDNA replication or encourage replication of wild-type mtDNA.

Keywords

Kearns-Sayre’s syndrome CPEO (Chronic progressive external ophthalmoplegia with myopathy) Chronic progressive external ophthalmoplegia with ragged red fibers Oculo cranio somatic neuromuscular disease with ragged red fibers 

Notes

Conflict of Interest

None.

Role of Funding Source

None.

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Copyright information

© Dr. K C Chaudhuri Foundation 2011

Authors and Affiliations

  • Meghana Phadke
    • 1
  • M. R. Lokeshwar
    • 1
    • 4
    Email author
  • Shraddha Bhutada
    • 1
  • Chandralekha Tampi
    • 3
  • Renu Saxena
    • 2
  • Sudha Kohli
    • 2
  • K. N. Shah
    • 1
  1. 1.Department of PediatricsLilavati Hospital and Research CenterMumbaiIndia
  2. 2.Center of Medical GeneticsSir Gangaram HospitalNew DelhiIndia
  3. 3.Department of PathologyLilavati Hospital and Research CenterMumbaiIndia
  4. 4.MumbaiIndia

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