| Adrenoleukodystrophy 3례 |
| 박상철, 김춘식, 정근호, 조필자, 장지훈, 박재현, 구혜수 |
| 국립의료원 신경과, 상계백병원 신경과, 이화여자대학교 병리학교실 |
| Three Cases of Adrenoleukodystrophy |
| Sang Cheol Park, M.D., Chun Sik Kim, M.D., Keun Ho Chung, M.D., Phil Za Cho, M.D., Ji Hoon Jang, M.D., Jae Hyeon Park, M.D., Hea Soo Koo, M.D. |
| Department of Neurology, National Medical Center, College of Medicine, Inje University, Paik Hospital, Sanggye, Dept of Pathology, College of Medicine, Ewha Woman's University |
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| Abstract |
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Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 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 findi I ngs and sural nerve biopsy was performed in one. |
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