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KMID : 0356620090240010058
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Journal of Korean Society of Endocrinology
2009 Volume.24 No. 1 p.58 ~ p.62
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A Case of Adult-Onset Adrenoleukodystrophy Combined with Moyamoya Disease
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Kim Yong-Chul
Park Byoung-Hyun
Yu Tae-Yang
Jin Ae-Ryoung
Nho Hye-Jung
Yang Chung-Yong
Kim Ha-Young
Cho Chung-Gu
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Abstract
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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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KEYWORD
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adrenoleukodystrophy, moyamoya disease
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