멘케스 병 환아의 3년 추적관찰

3-year Follow-up of a Menkes Disease Patient

저자들은 특징적 모발 소견과 발달 지연, 경련을 보인 6개월 남아에서 낮은 혈청 구리와 ceruloplasmin 농도로 멘케스 병을 진단하고, ATP7A 유전자의 exon 17에서 missence mutation(p.G1118S)을 확인하였다. 3년 추적관찰 동안 발달은 퇴행하면서 뇌 위축, 다발성 방광게실, 골변형 등이 동반된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.