A Case of Krabbe Disease.
- Author:
Sun Yoon JUNG
1
;
Han Ku MOON
Author Information
1. Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
Krabbe disease;
Galactocerebroside bata-galactosidase
- MeSH:
Brain;
Demyelinating Diseases;
Diagnosis;
Failure to Thrive;
Fibroblasts;
Humans;
Korea;
Leukocytes;
Leukodystrophy, Globoid Cell*;
Magnetic Resonance Imaging;
Neurodegenerative Diseases;
Peripheral Nerves
- From:
Journal of the Korean Child Neurology Society
2001;9(2):411-415
- CountryRepublic of Korea
- Language:Korean
-
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.
