모야모야병이 동반된 성인형 부신백질이양증

• Published in: Endocrinology and metabolism (Seoul) Vol. 24; no. 1; pp. 58 - 62
• Main Authors: 김용철, Yong Cheol Kim, 박병현, Byoung Hyun Park, 유태양, Tae Yang Yu, 진애령, Ae Ryoung Jin, 노혜정, Hye Jung Noh, 양충용, Chung Yong Yang, 김하영, Ha Young Kim, 조정구, Chung Gu Cho
• Format: Journal Article
• Language: Korean
• Published: 대한내분비학회 28-02-2009
• Subjects: adrenoleukodystrophy; moyamoya disease
• ISSN: 2093-596X

저자들은 과거력에서 뇌 모야모야병으로 진단받고 뇌혈관 수술한 이후 부신 기능저하증을 동반한 성인형 ALD가 서서히 발현되어 뇌동정맥 기형에 대한 뇌혈관 수술이 하나의 중요한 발병의 외부조건으로 여겨질 수 있는 성인형 ALD 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
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. (J Korean Endocr Soc 24:58~62, 2009)