脑腱黄瘤病:一系列临床放射学表现

Shubham Saini, Neha Bagri
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引用次数: 0

摘要

脑腱黄瘤病是一种罕见的常染色体隐性遗传病,由于胆汁酸生物合成缺陷而发生,导致多种软组织异常的胆固醇和胆固醇沉积。它表现为各种神经和非神经症状。其特征性影像学表现和临床症状有助于早期诊断和及时治疗,预防神经系统后遗症。作者介绍了两名临床症状不同的成年人,其影像学为诊断脑腱黄瘤病提供了关键线索。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imaging features and clinical symptoms can help to make an early diagnosis and induce timely treatment to prevent neurological sequelae. The authors present two adults with differing clinical symptoms, whose imaging provided pivotal cues in diagnosing cerebrotendinous xanthomatosis.
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