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KMID : 0391520110190030272
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Journal of the Korean Child Neurology Society
2011 Volume.19 No. 3 p.272 ~ p.276
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independent walking before the onset of sympA Confirmed by Molecular Genetic Analysis
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Lee Ji-Hyun
Min Kyong-Bok
Lee Young-Mock
Kang Hoon-Chul
Lee Joon-Soo
Kim Heung-Dong
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Abstract
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Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.
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KEYWORD
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Metachromatic leukodystrophy, Arylsulfatase A, ARSA gene, MRI, MR spectroscopy
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