Aryal Sajiva, Sharma Suraj, Poudel Saroj, Sharma Sunita
Kathmandu Medical College, Kathmandu, Nepal.
Bir Hospital, Nepal.
Radiol Case Rep. 2022 Sep 18;17(11):4403-4407. doi: 10.1016/j.radcr.2022.08.052. eCollection 2022 Nov.
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.
X连锁肾上腺脑白质营养不良是一种罕见的遗传性过氧化物酶体疾病，由基因突变引起。这种突变会损害超长链脂肪酸（VLCFA）正常转运到过氧化物酶体，从而阻碍VLCFA的分解，导致其在体内血浆和组织中蓄积。由于其X连锁遗传，典型地影响年轻男性，大多数病例在儿童期被诊断。脑部有特征性的MRI表现，有助于X-ALD的诊断。我们在此报告一例10岁男孩，其出现神经和行为恶化，MRI表现提示X-ALD。MRI不仅有助于X-ALD的诊断，还能识别脑部受累模式，这对疾病的预后和转归起着重要作用。
