A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation.

Choi,  Soo Han; Lee,  Jeehun; Lee,  Sanggoo; Ki,  Chang Seok; Lee,  Munhyang

Case Report

Journal of the Korean Child Neurology Society 2009;17(2):209-214.
Published online November 30, 2009.

A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation.

Soo Han Choi, Jeehun Lee, Sanggoo Lee, Chang Seok Ki, Munhyang Lee

¹Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. mhlee091@skku.edu
²Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Abstract

Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis of myelin-forming cells of the central and peripheral nervous system. The patients with typical infantile onset Krabbe disease have extreme irritability, developmental regression, spasticity, and seizures with an onset prior to six months of age. These children usually die within two years after birth. We report a female infant who showed the characteristic clinical manifestations, disease course, and neuroimaging features of infantile onset Krabbe disease that was confirmed by the identification of a compound heterozygous mutation of the GALC gene.

Key Words: Krabbe disease, Galactocerebrosidase, Mutation