Abstract
Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of ${\beta}$-galactosidase and ${\alpha}$-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized: early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only ${\beta}$-galactosidase deficiency in the lymphocytes and was initially diagnosed as $GM_1$-gangliosidosis type 1. However, further studies revealed the possible defect of ${\alpha}$-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking $GM_1$-gangliosidosis type 1.
저자들은 출생 후 정상적인 발달을 보이다가 생후 6개월부터 의식과 운동 발달의 퇴행을 보이던 13개월 환아에서 효소 검사를 시행하여 ${\beta}$-galactosidase의 결핍을 확인하고 $GM_1$-gangliosidosis type 1으로 진단하였지만, 후에 추가적으로 시행한 효소 검사에서 ${\alpha}$-neuraminidase의 결핍도 발견되어 galactosialidosis로 진단한 증례를 경험하였기에 문헌 고찰과 함께 보고하고자 한다.