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Adrenoleukodystrophy -A Case Report- : Adrenoleukodystrophy 1례

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Authors

Han, Seol-Heui; Lee, Sang-Kun; Roh, Jae-Kyu; Lee, Sang-Sok; Myung, Ho-Jin; Chang, Kee-Hyun

Issue Date
1989-03
Publisher
Seoul National University College of Medicine
Citation
Seoul J Med, Vol.30 No.1, pp. 73-78
Keywords
AdrenoleukodystrophyVery long chain fatty acidsHigh-performance liquid chromatographyMR imaging
Abstract
We describe a 9-year-old boy who showed typical neurologic manifestations i.e.,
progressive behavioral changes, intellectual impairment, visual disturbances and hearing loss,
cerebellar and pyramidal signs with characteristic neuroimaging features, which led us to
make a clinical deagnosis of ALD. It was confirmed later by demonstration of increased
VLCFA levels in RBC membrane using HPLC. He has no family history of neurologic or
endocrine disorder. Prophylactic antiepileptic medicaion could not prevent the development
of seizure disorder.
ISSN
0582-6802
Language
English
URI
https://hdl.handle.net/10371/5537
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