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J Korean Neurol Assoc. 2004 Apr;22(2):167-171. Korean. Case Report.
Nam KS , Rhu SH , Sung YH , Oh MS , Jeong HW , Lee BC , Lee KH , Min KS , Han SH , Ki CS , Kim JW .
Department of Neurology and Hallym University College of Medicine, Seoul, Korea. klee@mail.mcg.edu
Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
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.

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