A Case of Krabbe Disease.

Jung,  Sun Yoon; Moon,  Han Ku

Case Report

Journal of the Korean Child Neurology Society 2001;9(2):411-415.
Published online October 30, 2001.

A Case of Krabbe Disease.

Sun Yoon Jung, Han Ku Moon

Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Korea.

Abstract

Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside bata-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 bata-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 bata-galactosidase enzyme in leukocyte.

Key Words: Krabbe disease, Galactocerebroside bata-galactosidase