COCKAYNE SYNDROME- A RARE CASE REPORT
Abstract
Cockayne syndrome is a rare genetic disorder with an incidence of 2.7 per million live births. We hereby present a case report of a 12 year old boy who presented with failure to gain weight and height appropriate for age and progressive hard of hearing. Examination revealed senile appearance, cachectic dwarfism, facial dysmorphism, microcephaly with mental retardation, cutaneous photosensitivity, sensorineural type of hearing loss and features of peripheral neuropathy thus fitting into the diagnosis of Cockayne syndrome.
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Chien YH, Chou HC, Whu WL. Cockayne syndrome. Cockayne syndrome in a family. Acta Pediatr Taiwan 2002; 43:46-9.
Troelstra, Odijk H, de Wit J, et al. Molecular cloning of the human DNA excision repair gene ERCC-6.1990; 10 Mol Cell Biol:5806-13.
Otuska, Robbins JH. The Cockayne syndrome – an inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Am J Dermatopathol 1985; 7:387.
Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992; 42:68-64.
Troelstra C, Hesen W, Bootsma D, Hoejimakers JH. Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne syndrome group B. Nucleic Acids Res. 1993; 21:419-26.
Henning KA, Li L, Iyer N, Mc Daniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC.The Cockayne syndrome encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell.1995; 82:555- 64.
Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratcher A, Jasper NG, Sarasin A,Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in western
Europe: Xeroderma pigmentosa, Cockayne syndrome, Trichothiodystrophy. DNA Repair(Amst).2008; 7:744-50.
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