모야모야병이 동반된 성인형 부신백질이양증 1예

• Published in: Endocrinology and metabolism (Seoul) pp. 58 - 62
• Main Authors: 김용철, 박병현, 노혜정, 양충용, 김하영, 조정구, 유태양, 진애령
• Format: Journal Article
• Language: Korean
• Published: 대한내분비학회 01.03.2009
• Subjects: 내과학
• ISSN: 2093-596X; 2093-5978

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. KCI Citation Count: 2