OBJECTIVE To characterize peripheral nerve morphology in cerebrotendinous xanthomatosis (CTX) patients using high-resolution ultrasound (HRUS) in vivo. We hypothesized that nerve enlargements might be present in CTX as a result of accumulation of abnormal lipids with deposition also in peripheral nerves. METHODS Four CTX patients were examined using HRUS to assess morphological abnormalities of peripheral nerves as well as cervical nerve roots 5 and 6. RESULTS HRUS revealed mild to moderate, hypoechogenic thickening of sensorimotor nerves (ulnar nerve in 1/4, tibial nerve in 3/4, median nerve 4/4 patients) as well as mild enlargement of pure sensory nerves (sural nerve in 2/3, superficial FN in 2/4 patients). The vagal nerve was moderately enlarged in one patient, cervical roots showed moderate enlargements of C5 in two patients, one of which also showing thickening of C6 as well as in another patient. UPSS score was slightly to moderately abnormal in all patients. The Homogeneity score was not increased suggesting regional to inhomogeneous nerve enlargement. CONCLUSIONS HRUS shows multifocal, hypoechogenic nerve thickening of peripheral nerves and nerve roots in CTX. SIGNIFICANCE HRUS might serve as a valuable, additive and non-invasive bedside tool to assess peripheral nerve morphology in future clinical studies on CTX patients.

中文翻译：

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脑腱黄瘤病多灶性低回声神经增厚

目的 使用体内高分辨率超声 (HRUS) 表征脑腱黄瘤病 (CTX) 患者的周围神经形态。我们假设 CTX 中可能存在神经增大，这是由于异常脂质的积累以及外周神经中的沉积。方法 使用 HRUS 检查四名 CTX 患者以评估周围神经以及颈神经根 5 和 6 的形态异常。结果 HRUS 显示感觉运动神经轻度至中度低回声增厚（尺神经在 1/4，胫神经在 3/ 4、正中神经4/4患者）以及纯感觉神经轻度肿大（腓神经2/3，浅表FN 2/4）。1例患者迷走神经中度增大，2例患者颈根C5中度增大，其中一个也显示 C6 增厚以及另一名患者。所有患者的 UPSS 评分均有轻微至中度异常。同质性评分没有增加，表明区域性至不均匀性神经增大。结论 HRUS 显示 CTX 中周围神经和神经根的多灶性、低回声神经增厚。意义 HRUS 可作为一种有价值的、附加的和非侵入性的床边工具，用于在未来对 CTX 患者的临床研究中评估周围神经形态。