A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside β-galactosidase Gene (GALC)

J Korean Neurol Assoc > Volume 22(2); 2004 > Article

Journal of the Korean Neurological Association 2004;22(2): 167-171.

갈락토세레브로시다아제 유전자 분석으로 확진된 크라베(Krabbe)병 1예

남경식, 류상효 성영희 오미선 정혜원 이병철 이기형 민기식 한성희 기창석 김종원

한림대학교 의과대학 신경과학교실, 소아과학교실*, 성균관대학교 의과대학 삼성서울병원 진단검사의학교실

A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside β-galactosidase Gene (GALC)

Kyeong-Sik Nam

Department of Neurology and Pediatrics*, Hallym University College of Medicine, Seoul; Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center†, Seoul, Korea

Abstract

Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before 6 months of age, and dies within 2 years. Previously, one case was confirmed by an enzyme test in Korea. We herein report a 2 year-old girl who showed the characteristic clinical course and neuroimaging features of infantile-onset Krabbe disease. Genetic testing identified the compound heterozygote mutations in the GALC gene; NLWE212_ 215TP/302A.Key Words: Krabbe disease, Optic hypertrophy, GALC