Bäumer Tobias, Bühring Nina, Schelle Thomas, Münchau Alexander, Muschol Nicole
Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Department of Neurology, University Medical Hospital Hamburg-Eppendorf, Hamburg, Germany.
Dev Med Child Neurol. 2016 Nov;58(11):1172-1179. doi: 10.1111/dmcn.13127. Epub 2016 Apr 21.
Mucopolysaccharidoses (MPS) are a group of diseases with an almost 100% lifetime incidence of carpal tunnel syndrome (CTS) in MPSsubtypes I, II, and VI. We compared nerve ultrasound with clinical signs and electrophysiology in a clinical setting to screen for CTSin MPS.
Twenty-four patients (13 male, 11 female, mean age of 7y 11mo [SD8y 5mo], range 6mo-29y) were screened for CTS. Eight of these patients were re-examined post-operatively. Clinical signs, distal motor latency, compound muscle action potential, sensory nerve action potential amplitude and velocity, as well as echogenicity and the cross-sectional area (CSA) of the median nerve at the wrist and forearm determined with ultrasound were assessed and the wrist to forearm ratio (WFR) calculated. Eighteen healthy participants formed a comparison group, who were also investigated with nerve ultrasound.
In 26% of the patients' hands, clinical signs of CTSwere present; 77% fulfilled electrophysiological and 92% nerve ultrasound criteria for CTS. Post-operatively, electrophysiology improved significantly, whereas ultrasound results were unchanged. In the comparison group, age and height correlated with the CSA, but not with WFR.
Nerve ultrasound is a useful and painless primary screening tool for CTSin MPS.
黏多糖贮积症（MPS）是一组疾病，在MPS I、II和VI型亚型中，腕管综合征（CTS）的终生发病率几乎为100%。我们在临床环境中比较了神经超声与临床体征及电生理检查，以筛查MPS患者的CTS。
对24例患者（13例男性，11例女性，平均年龄7岁11个月[标准差8岁5个月]，范围6个月至29岁）进行CTS筛查。其中8例患者术后接受复查。评估临床体征、远端运动潜伏期、复合肌肉动作电位、感觉神经动作电位幅度和速度，以及通过超声测定的腕部和前臂正中神经的回声性和横截面积（CSA），并计算腕部与前臂比值（WFR）。18名健康参与者组成对照组，也接受神经超声检查。
在患者的手部中，26%存在CTS临床体征；77%符合CTS的电生理标准，92%符合神经超声标准。术后，电生理检查有显著改善，而超声检查结果未变。在对照组中，年龄和身高与CSA相关，但与WFR无关。
神经超声是筛查MPS患者CTS的一种有用且无痛的初步筛查工具。
