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J Korean Child Neurol Soc. 2001 Oct;9(2):411-415. Korean. Case Report.
Jung SY , Moon HK .
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.

Copyright © 2019. Korean Association of Medical Journal Editors.