DeSanctis-Cacchione 증후군 1례

A Case of Desanctis-Cacchione Syndrome

저자들은 태양광 노출부위의 주근깨 모양의 색소침착, 사래들림, 청색증을 주소로 내원한 17세 여아에서 특징적 피부소견과 정신지체에 근거하여 국내 최초로 Desanctis-Cacchione 증후군 1례를 경험하였기에 보고하는 바이다.

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 se텨미 development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old femeal patient, which ifts into Desanctis-Cacchione syndrome clinically.