Krabbeº´ 1·Ê
A Case of Krabbe Disease
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KMID : 0391520010090020411
Abstract
ÀúÀÚµéÀº º¸Ã¨°ú ±¸Åä, ¼¼È÷ ÁøÇàµÇ´Â ¹ß´ÞÀÇ Áöü¿Í ÅðÇàÀ» ÁÖ¼Ò·Î ³»¿ø ÇÏ¿´´ø 11°³¿ùµÈ ³²¾Æ¿¡¼ ¹Ì¸¸¼º ¸»ÃʽŰ溴Áõ¿¡ ºÎÇյǴ ¼Ò°ß, °æµµÀÇ ´Ü¹éÀÌ Áõ°¡ÇÑ ³úô¼ö¾× ¼Ò°ß ±×¸®°í ³ú ¹éÁú º¯¼ºÀÇ ¼Ò°ßÀ» º¸ÀÌ´Â ³ú ÀÚ±â°ø¸í¿µ»ó ¼Ò°ßÀÌ ³ªÅ¸³ª°í ¹éÇ÷±¸ÀÇ
galactocerebroside ¥â-galactosidase È°¼ºµµÀÇ °¨¼Ò·Î ÅðÇ༺ ³úÁúȯÀÎ Krabbeº´À¸·Î È®ÁøÇÑ ¿¹¸¦ °æÇèÇÏ¿© º¸°íÇÏ´Â ¹ÙÀÌ´Ù.
Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside ¥â-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 ¥â-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 ¥â-galactosidase enzyme in
leukocyte.
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Krabbe disease; Galactocerebroside ¥â-galactosidase;
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