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KMID : 0359719950130030657
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Journal of the Korean Neurological Association
1995 Volume.13 No. 3 p.657 ~ p.664
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Three Cases of Adrenoleukodystrophy
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박상철
김춘식/정근호/조핀자/장지훈/박재현/구혜수
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Abstract
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Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelination of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a
17 and
a 20 year old males that were diagnosed by increased plasma content of very long chain fatty acid (VLCFA). The clinical symptoms include seizure, visual impairment, and hemiparesis. Two cases showed typical radiological findings and sural nerve
biopsy
was performed in one.
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KEYWORD
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