GM₂ Gangliosidosis II 1례

GM₂ Gangliosidosis II

저자들은 발달 장애를 보이며 경련을 주소로 내원한 15개월 남아에서 GM₂ Gangliosidosis II로 진단된 환아 1례를 체험하였기에 문헌 고찰과 함께 보고하는 바이다.

GM₂ gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of β-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset resulting death before 4 years, to subacute or chronic forms with more slowly progressive neurologic condition. We experienced a case of GM2 gangliosidosis II in a 14 months old male who had developmental deterioration and seizures, so we report and review the related literatures.