eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Kearns-Sayre Syndrome: Follow-up

Author: Ewa Posner, MD, Consultant Pediatrician, Department of Pediatrics, University Hospital of North Durham, UK
Coauthor(s): Anna Purna Basu, BM, BCh, PhD, MA, MRCPCH, Registrar, Pediatric Neurology, Newcastle General Hospital; Clinical Research Associate, University of Newcastle upon Tyne, UK; D M Turnbull, MBBS, PhD, MD, Professor, Department of Neurology, University of Newcastle Upon Tyne, UK; Honorary Consultant Neurologist, Royal Victoria Infirmary, Newcastle Upon Tyne, UK
Contributor Information and Disclosures

Updated: Sep 15, 2008

Follow-up

Further Outpatient Care

  • Kearns-Sayre syndrome can involve many systems and organs. Clinicians must maintain constant and comprehensive surveillance. Be especially alert for signs or symptoms of diabetes mellitus and for heart block; the latter may develop at any stage. The possibility of heart block makes performing regular ECG studies important.
  • In patients with aponeurogenic ptosis, surgical shortening of levator muscles can elevate the eyelid mechanically, but exposure may lead to corneal damage. Surgeries to correct ptosis should occur only in centers with specialists in ophthalmic surgical procedures.
  • Attempts have been made to encourage regeneration of muscle fibers, a process that occurs via satellite cells that contain very low levels of mutant DNA. Andrews et al injected bupivacaine into the eyelid levator muscles to encourage regenerative processes.3 The attempts were unsuccessful, possibly because the damage was insufficient to promote an adequate level of regeneration.

Complications

  • Since patients with Kearns-Sayre syndrome may develop a wide range of complications, no consensus has been reached on the monitoring level required. Guide the care of patients by paying vigilant attention to clinical signs and symptoms.
  • Heart block is a significant and preventable cause of mortality.
  • The neuromuscular manifestation has been reported to worsen after local anesthesia with articaine.

Prognosis

  • Kearns-Sayre syndrome is a progressive disorder, and the prognosis for patients with the condition is poor. Death is common in the third or fourth decade of life.
  • As in other mtDNA deletion disorders, women who have Kearns-Sayre syndrome have an increased risk of clinically affected offspring. The risk is currently estimated at approximately 1 per 24 births.

Patient Education

  • Participation in an exercise-training program can lead to a subjective improvement in muscle-related symptoms, enhanced aerobic exercise capacity, and increased muscle strength.
  • Patients can access the Kearns-Sayre Syndrome Information Page maintained by the National Institute of Neurological Disorders and Stroke for information on the disorder and support organizations.

Miscellaneous

Medicolegal Pitfalls

  • Kearns-Sayre syndrome often involves conduction system defects. ECG surveillance is important for patients diagnosed with Kearns-Sayre syndrome because pacemaker insertion may prevent death from a heart block.
 


More on Kearns-Sayre Syndrome

Overview: Kearns-Sayre Syndrome
Differential Diagnoses & Workup: Kearns-Sayre Syndrome
Treatment & Medication: Kearns-Sayre Syndrome
Follow-up: Kearns-Sayre Syndrome
References
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References

  1. Tanji K, DiMauro S, Bonilla E. Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. J Neurol Sci. Jun 15 1999;166(1):64-70. [Medline].

  2. Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf). Jul 1992;37(1):97-103. [Medline].

  3. Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye. Dec 1999;13 ( Pt 6):769-72. [Medline].

  4. Anan R, Nakagawa M, Miyata M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. Feb 15 1995;91(4):955-61. [Medline]. [Full Text].

  5. Bosbach S, Kornblum C, Schroder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain. May 2003;126(Pt 5):1231-40. [Medline]. [Full Text].

  6. Chinnery PF, DiMauro S, Shanske S, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet. Aug 14-20 2004;364(9434):592-6. [Medline].

  7. Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in the pathogenesis of human disease. Mol Med Today. Nov 2000;6(11):425-32. [Medline].

  8. Chu BC, Terae S, Takahashi C, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology. Oct 1999;41(10):759-64. [Medline].

  9. Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. Am J Hum Genet. Mar 2001;68(3):802-6. [Medline].

  10. Emma F, Pizzini C, Tessa A, et al. "Bartter-like" phenotype in Kearns-Sayre syndrome. Pediatr Nephrol. Mar 2006;21(3):355-60. [Medline].

  11. Finsterer J, Haberler C, Schmiedel J. Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia. Clin Neuropharmacol. May-Jun 2005;28(3):148-9. [Medline].

  12. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. May 18 1989;320(20):1293-9. [Medline].

  13. OMIM. Kearns-Sayre syndrome. Online Mendelian Inheritance in Man Web site. Available at http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?530000. Accessed July 9, 2008.

  14. Pijl S, Westerberg BD. Cochlear implantation results in patients with Kearns-Sayre syndrome. Ear Hear. Jun 2008;29(3):472-5. [Medline].

  15. Yamashita S, Nishino I, Nonaka I, Goto Y. Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 2008;53(7):598-606. [Medline].

  16. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988. Neurology. Dec 1998;51(6):1525 and 8 pages following. [Medline].

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Further Reading

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Keywords

Kearns-Sayre syndrome, KSS, ophthalmoplegia-plus syndrome, oculocraniosomatic syndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, ophthalmoplegia, pigmentary degeneration of the retina, cardiomyopathy, progressive ophthalmoplegia, Pearson syndrome, mtDNA deletions, mitochondrial encephalopathy, short stature, hypoparathyroidism, bilateral sensorineural deafness, dementia, cataracts, proximal renal tubular acidosis, heart block, syncope, cardiac failure, hypogonadism

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Contributor Information and Disclosures

Author

Ewa Posner, MD, Consultant Pediatrician, Department of Pediatrics, University Hospital of North Durham, UK
Ewa Posner, MD is a member of the following medical societies: European Paediatric Neurology Society and Royal College of Paediatrics and Child Health
Disclosure: Nothing to disclose.

Coauthor(s)

Anna Purna Basu, BM, BCh, PhD, MA, MRCPCH, Registrar, Pediatric Neurology, Newcastle General Hospital; Clinical Research Associate, University of Newcastle upon Tyne, UK
Anna Purna Basu, BM, BCh, PhD, MA, MRCPCH is a member of the following medical societies: British Medical Association
Disclosure: Nothing to disclose.

D M Turnbull, MBBS, PhD, MD, Professor, Department of Neurology, University of Newcastle Upon Tyne, UK; Honorary Consultant Neurologist, Royal Victoria Infirmary, Newcastle Upon Tyne, UK
D M Turnbull, MBBS, PhD, MD is a member of the following medical societies: Royal College of Physicians
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Director, Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children's Hospital of Michigan; Professor (Clinician-Educator), Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Margaret McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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