영아 연축을 동반한 멘케스병 1례

A Case of Menkes disease with Infantile Spasm

저자들은 기면과 수유량 감소를 주소로 입원한 4개월 남자 환아에서 ATP7A 유전자 돌연변이로 확진된, 영아 연축을 동반한 멘케스병 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Menkes disease, so called kinky-hair syndrome, is a rare, genetic and progressive neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper transporting ATPase in the cell organelles. The dysfunction of many copper-dependent enzymes results in low concentration of copper in some tissues and accumulation of copper in others. We report a boy presented with kinky hairs, developmental delay, hypotonia and connective tissue abnormalities at the age of 4 months. Despite the treatment with various antiepileptic drugs, atonic seizures still persisted. At the age of 7 months, his atonic seizures was changed into extensor spasms with modified hypsarrhythmia for some years. The seizure were controlled by topiramate and vigabatrin. At the age of 22 months, serum copper and ceruloplasmin rechecked as 17 ug/dL(80-150 ug/dL) and 7.3 mg/dL(20-46 mg/dL) respectively. The gene study showed ATP7A mutation and the patient was diagnosed as Menkes disease so that copper-histidine was daily injected. We experienced a case of a 4-month-old boy with Menkes disease and infantile spasm, confirmed by ATP7A mutation.