INFANTILE ONSET OF COCKAYNE SYNDROME WITHOUT PHOTOSENSITIVITY IN A TUNISIAN GIRL

##plugins.themes.academic_pro.article.sidebar##

Published Dec 10, 2009
Download
pdf
Vol. 87 No. 12 (2009): Issue Dec 2009

##plugins.themes.academic_pro.article.main##

Faten Tinsa
Manel Bellalah
Ines Brini
Dorra Bousnina
Alan Lehmann
Khadija Boussetta
Souad Bousnina

Abstract

Background: Cockayne syndrome is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. Classically, the onset of Cockayne syndrome starts in the second year of life. The failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful diagnostic test and the clinical feature that correlates most strongly with defective RNA synthesis is photosensitivity.
Aim: To report an unusual case of Cockayne Syndrome.
Case report: A case of a five-year-old girl with Cockayne with an onset in early infancy the girl and without photosensitivity is presented. The diagnosis was confirmed by the failure of RNA synthesis to recover to normal rate after UV-C irradiation. The patient died at the age of 6 of pneumonia.
Conclusion: Although rare, Cockayne syndrome may be presented without photosensitivity and had an early onset.

Keywords:

Cockayne syndrome, DNA repair, mental retardation

##plugins.themes.academic_pro.article.details##

References

  1. Ozdirim E, Topcu M, Ozon A, Cila A. Cockayne syndrome: Review of 25 cases. Pediatr Neurol 1996; 15:312-6.
  2. Pasquier L, Laugel V, Lazaro L, et al. Clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch Dis Child 2006; 91:178-182.
  3. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992;42:68-84.
  4. Cleaver J E. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer 2005; 5:564-573.
  5. Lindebaum Y, Dickson D, Rosenbaum P, et al. Xeroderma pigmentosum/ Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol 2001;5:225-242.
  6. Falik-Zaccai T C, Laskar M, Kfir N, et al. Cockayne syndrome type II in a Druze isolate in northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet 2008; 146A: 1423-1429.
  7. Lehmann AR, Thompson AF, Harcourt SA, et al. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 1993 30: 679-682
  8. Lehmann AR. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 2003; 85:1101-1111
  9. Frosina G. The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. Free Radic Biol Med 2007;43:165-177
  10. Kleijer WJ, Van der Sterre ML, Garritsen VH, et al. Raams A, Jaspers N G. Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience. Prenat Diagn 2006; 26:980-984.