Cockayne syndrome misdiagnosed as cerebral palsy : a case report.
Iranian Journal of Child Neurology,
Vol. 12 No. 4 (2018),
5 September 2018
A 7 years old patient was referred to our pediatric orthopedic clinic with the diagnosis of cerebral palsy. His parents were concerned about some inconsistencies in his disease progression. After initial evaluations, we were convinced that the diagnosis of cerebral palsy was incorrect. The true diagnosis was suspected and confirmed with molecular genetic analysis. A rare autosomal recessive disorder –cockayne syndrome- has been diagnosed. Although untreatable, it can be prevented by appropriate prenatal diagnostic tests for their future children.
- Cerebral Palsy
- Prenatal Diagnosis
Panteliadis CP, Hagel C, Karch D, Heinemann K. Cerebral palsy: a lifelong challenge asks for early intervention. The open neurology journal. 2015;9:45.
Wilson III DM, Bohr VA. Special issue on the segmental progeria Cockayne syndrome. Mechanisms of ageing and development. 2013 May;134:159.
Schmickel RD, Chu EH, Trosko JE, Chang CC. Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics. 1977 Aug 1;60(2):135-9.
Jeeves, W. Patrick, and Andrew J. Rainbow. "UV Enhanced Reactivation of UV-and γ-irradiated Adenovirus in Cockayne Syndrome and Xeroderma Pigmentosum Fibroblasts." International Journal of Radiation Biology and Related Studies in Physics, Chemistry and Medicine 43.6 (1983): 625-647.
Henning, Karla A., et al. "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH." Cell 82.4 (1995): 555-564.
Licht, Cecilie Löe, Tinna Stevnsner, and Vilhelm A. Bohr. "Cockayne syndrome group B cellular and biochemical functions." The American Journal of Human Genetics 73.6 (2003): 1217-1239.
Nance, Martha A., and Susan A. Berry. "Cockayne syndrome: review of 140 cases." American journal of medical genetics 42.1 (1992): 68-84.
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