Department of Neuroimaging and Interventional Neuroradiology (NIIR), National Institute of Mental Health and Neurosciences, (NIMHANS), Bengaluru, Karnataka, India.
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, (NIMHANS), Bengaluru, Karnataka, India.
Neurol India. 2022 Jul-Aug;70(4):1554-1561. doi: 10.4103/0028-3886.355099.
X-linked adrenoleukodystrophy (X-ALD) occurs due to the mutation in the ABCD1-gene. Our study was to correlate the clinical, radiological, and biochemical features in a cohort of X-ALD patients.
We retrospectively analyzed 48 (M: F: 47:1) biochemically confirmed cases of X-ALD, classified them as cerebral ALD (childhood, adolescent, and adult), adrenomyeloneuropathy, Addisonian only. The Magnetic Resonance Imaging (MRI) of the radiological patterns was classified based on Loes classification.
The various clinical phenotypes were childhood cerebral X-ALD (58.3%), adolescent cerebral X-ALD (14.6%), adult-cerebral X-ALD (20.8%), Addisonian variant (4.2%), and adrenomyeloneuropathy (AMN) (2.1%). The imaging features were posterior white matter (Pattern-1) observed in 33 (68.75%) patients, cerebellar white matter (Pattern-4) noted in 5 subjects, anterior white matter (Pattern-2) observed in 3 patients, combined parieto-occipital and frontal white matter (Pattern-5) observed in 3 patients, isolated projection fiber (Pattern-3) observed in 1 patient. Rare features of the involvement of optic tract, anterior and lateral columns of cervicodorsal cord, bilateral central tegmental tracts, basal ganglia, and tigroid appearance were observed.
This is a comprehensive clinical, biochemical, and imaging analysis with follow-up information of one of the largest series of X-ALD patients. The knowledge regarding the clinical features, typical and atypical imaging patterns is of vital importance for early diagnosis and treatment.
X 连锁肾上腺脑白质营养不良（X-ALD）是由于 ABCD1 基因突变引起的。我们的研究旨在对 X-ALD 患者的队列进行临床、影像学和生化特征的相关性分析。
我们回顾性分析了 48 例（男：女=47：1）经生化证实的 X-ALD 患者，将其分为脑型 ALD（儿童期、青少年期和成年期）、肾上腺脑白质营养不良、单纯 Addison 病。根据 Loes 分类法对影像学模式的磁共振成像（MRI）进行分类。
各种临床表型分别为儿童脑型 X-ALD（58.3%）、青少年脑型 X-ALD（14.6%）、成年脑型 X-ALD（20.8%）、Addison 变异型（4.2%）和肾上腺脑白质营养不良（AMN）（2.1%）。影像学特征为 33 例（68.75%）患者出现后白质（模式 1），5 例患者出现小脑白质（模式 4），3 例患者出现前白质（模式 2），3 例患者出现顶枕部和额部联合白质（模式 5），1 例患者出现孤立的投射纤维（模式 3）。还观察到视神经束、颈胸段前后柱、双侧中央被盖束、基底节和类锯齿状外观等罕见受累特征。
这是对最大的 X-ALD 患者之一进行的全面临床、生化和影像学分析，包括随访信息。了解临床特征、典型和非典型影像学模式对于早期诊断和治疗至关重要。
