Role of MRI in X-linked adrenoleukodystrophy—A case report

Radiology Case Reports

article

Sajiva Aryal¹  Suraj Sharma¹  Saroj Poudel¹  Sunita Sharma¹ 

[1] Kathmandu Medical College

关键词: Adrenoleukodystrophy;    Very long chain fatty acids;    X-linked disorder;   

DOI  :  10.1016/j.radcr.2022.08.052

学科分类：生物化学工程

来源: University of Washington * Department of Radiology

【 摘 要 】

X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes , hence impeding VLCFA breakdown leading to its accumulation in plasma and tissues of the body. Due to its X-linked inheritance, it classically affects young males with most cases diagnosed during childhood. There are characteristic MRI findings in brain which can aid in diagnosis of X-ALD. We hereby present a case of a 10-year-old boy who presented with neurological and behavioral deterioration with MRI findings suggestive of X-ALD. MRI not only aids in diagnosis of X-ALD but can also identify the pattern of brain involvement which serves an important role in prognosis and outcome of the disease.

【 授权许可】

CC BY|CC BY-NC-ND