Menkes 증후군 1례

A Case of Menkes' syndrome

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.