eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Cockayne Syndrome: Follow-up

Author: Suzanne M Carter, MS, Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine
Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG, Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine
Contributor Information and Disclosures

Updated: Nov 24, 2009

Follow-up

Further Inpatient Care

  • Use of a gastrostomy tube may prevent malnutrition in patients with Cockayne syndrome (CS) who feed poorly.

Further Outpatient Care

  • Monitor patients for hypertension, renal function, hearing loss, and dental caries.
  • Physical therapy delays the onset of joint contractures.

Transfer

  • Consider transfer or referral to a facility with expertise in cultured skin fibroblasts because very few laboratory personnel have expertise in this technique.

Deterrence/Prevention

  • Advise patients to avoid excessive sun exposure and to use sunscreen liberally when outdoors.

Complications

  • Mental retardation
  • Growth failure
  • Progressive pigmentary retinopathy
  • Sensorineural hearing loss
  • Joint contractures and ataxia
  • Hypertension
  • Photosensitivity
  • Premature death

Prognosis

  • Cockayne syndrome type 1 (CNK1) is an autosomal recessive disorder resulting in growth failure and progressive neurologic dysfunction.
  • Death usually occurs during adolescence, but survival into adulthood is possible.

Patient Education

  • Recommend genetic counseling because each sibling subsequently born to the parents of an affected child will have a 25% risk of having CNK1.
  • Cultured cells obtained from patients with Cockayne syndrome are hypersensitive to the lethal effects of UV. Also, the normal recovery in DNA and RNA synthesis after UV exposure does not occur in those cells. Measuring RNA synthesis and the secondary DNA synthesis of cultured amniocytes after irradiation with UV light has been successful in the prenatal diagnosis of Cockayne syndrome. Prenatal diagnosis based on molecular analysis in future pregnancies may also be possible if the mutations in the affected child are known.2
  • Advise parents that treatment is supportive and based on symptoms.
  • Optimize neurologic and neurosensory abilities in the patient.

Miscellaneous

Medicolegal Pitfalls

  • Failure to make the diagnosis and offer genetic counseling to parents of an affected child

Special Concerns

  • A severe form of Cockayne syndrome type 1 (CKN1) presents within the first 2 years of life. These children have low birth weight, congenital cataracts, microcephaly, and severe neurologic deficits at younger than 1 year.
 


More on Cockayne Syndrome

Overview: Cockayne Syndrome
Differential Diagnoses & Workup: Cockayne Syndrome
Treatment & Medication: Cockayne Syndrome
Follow-up: Cockayne Syndrome
Multimedia: Cockayne Syndrome
References
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References

  1. Laugel V, Dalloz C, Durand M, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. Nov 5 2009;[Medline].

  2. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

  3. Cao H, Williams C, Carter M, Hegele RA. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. J Hum Genet. 2004;49(1):61-3. [Medline].

  4. Chien YH, Chou HC, Hwu WL. Cockayne syndrome in a family. Acta Paediatr Taiwan. Jan-Feb 2002;43(1):46-9. [Medline].

  5. Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat. 1999;14(1):9-22. [Medline].

  6. Greenhaw GA, Hebert A, Duke-Woodside ME, et al. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet. Apr 1992;50(4):677-89. [Medline].

  7. Higginbottom MC, Griswold WR, Jones KL, et al. The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. Pediatrics. Dec 1979;64(6):929-34. [Medline].

  8. Kleijer WJ, van der Sterre ML, Garritsen VH. Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience. Prenat Diagn. Oct 2006;26(10):980-4. [Medline].

  9. Lehmann AR, Francis AJ, Giannelli F. Prenatal diagnosis of Cockayne's syndrome. Lancet. Mar 2 1985;1(8427):486-8. [Medline].

  10. Mathur R, Chowdhury MR, Singh G. Recent advances in chromosome breakage syndromes and their diagnosis. Indian Pediatr. Jun 2000;37(6):615-25. [Medline].

  11. Moyer DB, Marquis P, Shertzer ME, Burton BK. Cockayne syndrome with early onset of manifestations. Am J Med Genet. Oct 1982;13(2):225-30. [Medline].

  12. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. Jan 1 1992;42(1):68-84. [Medline].

  13. Proops R, Taylor AM, Insley J. A clinical study of a family with Cockayne's syndrome. J Med Genet. Aug 1981;18(4):288-93. [Medline].

  14. Rapin I, Weidenheim K, Lindenbaum Y. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol. Nov 2006;21(11):991-1006. [Medline].

  15. Ren Y, Saijo M, Nakatsu Y, et al. Three novel mutations responsible for Cockayne syndrome group A. Genes Genet Syst. Feb 2003;78(1):93-102. [Medline].

  16. Sugita T, Ikenaga M, Suehara N, et al. Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells. Clin Genet. Sep 1982;22(3):137-42. [Medline].

  17. Tan WH, Baris H, Robson CD, Kimonis VE. Cockayne syndrome: the developing phenotype. Am J Med Genet A. Jun 1 2005;135(2):214-6. [Medline].

  18. Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. Nov 15 1992;114(5):579-83. [Medline].

  19. Venema J, Mullenders LH, Natarajan AT, et al. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci U S A. Jun 1990;87(12):4707-11. [Medline].

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Further Reading

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Keywords

Cockayne syndrome, Cockayne syndrome type A, CS, CAS, cachectic dwarfism, premature aging, growth failure, pigmentary retinal degeneration, Cockayne syndrome type B, treatment, diagnosis, symptoms

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Contributor Information and Disclosures

Author

Suzanne M Carter, MS, Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine
Suzanne M Carter, MS is a member of the following medical societies: American Bar Association
Disclosure: Nothing to disclose.

Coauthor(s)

Susan J Gross, MD, FRCS(C), FACOG, FACMG, Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine
Susan J Gross, MD, FRCS(C), FACOG, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Obstetricians and Gynecologists, American Institute of Ultrasound in Medicine, American Medical Association, American Society of Human Genetics, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

Elaine H Zackai, MD, Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, 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 financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical 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, 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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