- 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
-
J Korean Endocr Soc. 2009;24(1):58-62. Published online March 1, 2009
-
DOI: https://doi.org/10.3803/jkes.2009.24.1.58
-
-
2,453
View
-
54
Download
-
2
Crossref
-
 Abstract
 PDF
- 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.
-
Citations
Citations to this article as recorded by  - Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
Hyung Jun Park, Ha Young Shin, Hoon-Chul Kang, Byung-Ok Choi, Bum Chun Suh, Ho Jin Kim, Young-Chul Choi, Phil Hyu Lee, Seung Min Kim
Yonsei Medical Journal.2014; 55(3): 676. CrossRef - An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Soon-Jung Shin, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Journal of Genetic Medicine.2013; 10(1): 43. CrossRef
|
KES
