Krabbe병 1례

A Case of Krabbe Disease

저자들은 보챔과 구토, 서서히 진행되는 발달의 지체와 퇴행을 주소로 내원 하였던 11개월된 남아에서 미만성 말초신경병증에 부합되는 소견, 경도의 단백이 증가한 뇌척수액 소견 그리고 뇌 백질 변성의 소견을 보이는 뇌 자기공명영상 소견이 나타나고 백혈구의 galactocerebroside β-galactosidase 활성도의 감소로 퇴행성 뇌질환인 Krabbe병으로 확진한 예를 경험하여 보고하는 바이다.

Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside β-galactosidase. The patient had typical clinical features of Krabbe disease, with irritability, hypertonicity, failure to thrive, and opisthotonic posturing. A brain MRI demonstrates profound white matter demyelination. The diagnosis of Krabbe disease is suspected on the basis of clinical pictures and confirmed by finding markedly reduced galactocerebroside β-galactosidase activity in leukocyte or cultured fibroblast. Here we present the first reported case of Krabbe disease in Korea confirmed by decreased activity of galactocerebroside β-galactosidase enzyme in leukocyte.