eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Kearns-Sayre Syndrome: Treatment & Medication

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

Treatment

Medical Care

No disease-modifying therapy is available for Kearns-Sayre syndrome. 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. Treat problems associated with Kearns-Sayre syndrome as needed (see Medication).

Consultations

  • All patients with Kearns-Sayre syndrome require the care of an ophthalmologist.
  • Consult with a cardiologist regarding pacemaker insertion for heart block.
  • Additional consultations (eg, endocrinologist, neurologist) may be needed, based on the status of the patient and the presence of complications. The use of cochlear implants for patients with significant deafness is under investigation.

Activity

Exercise may help patients with myopathy. Exercise that causes concentric shortening of muscles leads to proliferation of satellite cells, the muscle cell precursors that also are involved in muscle regeneration. Satellite cells contain undetectable levels of mutant mtDNA; if they proliferate, the proportion of wild-type DNA to mutant mtDNA can beneficially increase. Exercising to this extent is difficult for severely affected or young patients.

Medication

Coenzyme Q10 (CoQ10) administration and vitamin supplements have proven beneficial in individual cases, although effects are transient.

Treat problems associated with Kearns-Sayre syndrome as needed (eg, insulin for diabetes mellitus).

Nutritional supplements

Supplementation with CoQ10 may support normal heart function, provide antioxidant protection, and maintain healthy gums.


Ubidecarenone (Coenzyme Q10, Ubiquinone)

Functions as electron carrier between flavoproteins and in cellular respiration.

Adult

150-300 mg/d PO divided bid/tid

Pediatric

30-100 mg/d PO divided bid/tid; alternatively, 3 mg/kg/d PO divided bid/tid

Coadministration with warfarin may decrease INR; concomitant therapy with hypolipidemic agents may decrease plasma concentrations of endogenous ubidecarenone; concomitant therapy with oral hypoglycemic agents may inhibit effects of exogenous administration

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in patients with diabetes (may reduce insulin requirements), biliary obstruction, or hepatic insufficiency (decrease dose to avoid accumulation); commonly causes GI tract distress; high doses may elevate LFT findings

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
[ CLOSE WINDOW ]

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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

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

[ CLOSE WINDOW ]

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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.