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KMID : 0371620010160010107
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Journal of Wonkwang Medical Science
2001 Volume.16 No. 1 p.107 ~ p.112
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A Case of Krabbe disease
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Lee Chang-Woo
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Abstract
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Krabbe disease(Globoid cell leukodystrophy:GLD) is an inherited, autosomal recessive disease characterized by diminished or absent activitiy of galactosylceramidase (galactosylceramide β-galactosidase), resulting in the intracellular accumulation of psychosine, a substance toxic to myel-forming oligodendrocytes and Schwann cells. The disease is characterized by demyelination of the central and peripheral nervous systems and accumulation of globoid cells, it is primarily a disease of infants and children. We experienced a case of globoid cell leukodystrophy in a 15-month-old male who had seizure, irritability, restlessness, vomiting and delayed development. The MRI appearance is that of nonspecific prolongation of in the deep cerebral and cerbellar white matter: the cerebrum is particularly affected in the parietal lobes and cerebellar dentate nuclei are typically involved.
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KEYWORD
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Krabbe disease, Globoid cell leukodystrophy
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