J Korean Child Neurol Soc.
2002 Nov;10(2):383-387.
A Case of Desanctis-Cacchione Syndrome
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea. essuh@hosp.sch.ac.kr
Abstract
- Xeroderma pigmentosum is autosomal recessive, degenerative disease generated by abnormal repair of DNA damaged by ultraviolet radiation and environmental mutagens. DeSanctis-Cacchione syndrome is the most severe form of xeroderma pigmentosum variant. This syndrome is characterized with microcephaly, progressive mental retardation and deterioration, retarded growth and sexual development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old female patient, which fits into Desanctis-Cacchione syndrome clinically.
