Menkes 증후군 1례

• 영문명: A Case of Menkes' syndrome
• 발행기관: 대한소아신경학회
• 저자명: 박헌랑(Heon Lang Park) 김태호(Tae Ho Kim) 서은숙(Eun Sook Suh) 이동환(Dong Hwan Lee)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제1권 제2호, 144~151쪽, 전체 8쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1993.12.20

영문 초록

Menkes' syndrome is a neurodegenerative disease of copper metabolism, which is inherited by X-linked pattern. The clinical manifestations and laboratory deficits are mostly explicable in term of failure of the numerous copper-dependent enzyme systems. The incidence is presumably in the range 1 in 50,000 to 1 in 1,000,000. Survival varies between 3 months and 3 years, but is most often about 12 months. We experienced one case of Menkes' syndrome in 2 months old male who had frequent seizure, abnormal hair, hypopigmentation and low serum copper level. A review of literatures was also presented briefly.

키워드

Menkes' syndrome Copper