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HOME > Endocrinol Metab > Volume 24(1); 2009 > Article
Case Report A Case of Adult-Onset Adrenoleukodystrophy Combined with Moyamoya Disease.
Yong Cheol Kim, Byoung Hyun Park, Tae Yang Yu, Ae Ryoung Jin, Hye Jung Noh, Chung Yong Yang, Ha Young Kim, Chung Gu Cho
Endocrinology and Metabolism 2009;24(1):58-62
DOI: https://doi.org/10.3803/jkes.2009.24.1.58
Published online: March 1, 2009
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1Department of Internal Medicine, Wonkwang University School of Medicine, The Institute of Wonkwang Medical Sciences, Korea.
2Department of Rehabilitation Medicine, Wonkwang University School of Medicine, The Institute of Wonkwang Medical Sciences, Korea.
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Adrenoleukodystrophy (ALD) is a rare inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous systems and adrenal glands, and leads to leukoencephaly myeloneuropathy, adrenal insufficiency, and hypogonadism. Frequent phenotypes, which account for 80% of cases, are infantile ALD and adrenomyeloneuropathy. Adult-onset ALD is rare (1~3%). The diagnosis of X-linked ALD is based on clinical findings and abnormal plasma concentrations of VLCFA. Here, we report a rare case of adult-onset ALD, which might involve a brain vascular operation as an aggravating factor, combined with moyamoya disease, in a 35-year-old male who presented with adrenal insufficiency, abnormal brain imaging, and elevated VLCFA levels.

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