Background

Early precision diagnosis and effective treatment of opsoclonus myoclonus ataxia syndrome (OMAS) patients presenting with neuroblastoma can prevent serious neurological outcomes.

Objective

To assess the diagnostic value of ¹⁸F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) imaging in pediatric OMAS with neuroblastoma.

Materials and methods

A retrospective evaluation of 45 patients diagnosed with OMAS who underwent ¹⁸F-FDG PET/CT was performed. A univariate analysis was performed to compare clinical characteristics between OMAS with and without neuroblastoma. Univariate and multivariate logistic regression analyses were applied to identify independent risk factors for OMAS with neuroblastoma and to develop the clinical model. Finally, independent risk factors and PET/CT were fitted to build the combined model for the diagnosis of OMAS with neuroblastoma and presented as a nomogram. Receiver operating characteristic curve, decision curve, and calibration curve analyses were conducted to evaluate the performance of the models.

Results

Among 45 patients, 27 were PET/CT-positive, 23/27 lesions were neuroblastoma, and four were false positives. One of the false positive patients was confirmed to be adrenal reactive hyperplasia by postoperative pathology, and the symptoms of OMAS disappeared in the remaining three cases during clinical follow-up. The average maximal standardized uptake value of PET/CT-positive lesions was 2.6. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of PET/CT were 100%, 81.8%, 85.2%, 100%, and 91.1%, respectively. Age at diagnosis, lactate dehydrogenase, and neuron-specific enolase showed statistically significant differences between OMAS with and without neuroblastoma. Lactate dehydrogenase was identified as the independent risk factor to develop the clinical model, and the clinical model demonstrated an area under the curve (AUC) of 0.82 for the diagnosis of OMAS with neuroblastoma, with an AUC as high as 0.91 when combined with PET/CT. The decision curve analysis and calibration curve demonstrated that the nomogram had good consistency and clinical usefulness.

Conclusion

In patients with OMAS, ¹⁸F-FDG PET/CT has a high diagnostic accuracy in detecting tumors of the neuroblastoma, especially when combined with the independent risk factor serum lactate dehydrogenase.

Graphical abstract

中文翻译：

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18F-氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描成像对以神经母细胞瘤为表现的小儿视阵挛肌阵挛共济失调综合征的诊断价值

背景

对患有神经母细胞瘤的视阵挛肌阵挛共济失调综合征 (OMAS) 患者进行早期精确诊断和有效治疗可以预防严重的神经系统后果。

客观的

评估¹⁸ F-氟脱氧葡萄糖 (FDG) 正电子发射断层扫描/计算机断层扫描 (PET/CT) 成像对儿童 OMAS 神经母细胞瘤的诊断价值。

材料和方法

^{对 45 名诊断为 OMAS 并接受18} F-FDG PET/CT 的患者进行了回顾性评估。进行单变量分析来比较患有和不患有神经母细胞瘤的 OMAS 之间的临床特征。应用单变量和多变量逻辑回归分析来确定 OMAS 神经母细胞瘤的独立危险因素并开发临床模型。最后，对独立危险因素和 PET/CT 进行拟合，建立诊断 OMAS 伴神经母细胞瘤的组合模型，并以列线图的形式呈现。进行接受者操作特征曲线、决策曲线和校准曲线分析来评估模型的性能。

结果

45 例患者中，27 例 PET/CT 阳性，23/27 例病变为神经母细胞瘤，4 例为假阳性。其中1例假阳性患者经术后病理证实为肾上腺反应性增生，其余3例在临床随访中OMAS症状消失。 PET/CT 阳性病变的平均最大标准化摄取值为 2.6。 PET/CT的敏感性、特异性、阳性预测值、阴性预测值和准确性分别为100%、81.8%、85.2%、100%和91.1%。诊断时的年龄、乳酸脱氢酶和神经元特异性烯醇化酶在患有和不患有神经母细胞瘤的 OMAS 之间显示出统计学上的显着差异。乳酸脱氢酶被确定为开发临床模型的独立危险因素，临床模型显示诊断 OMAS 神经母细胞瘤的曲线下面积 (AUC) 为 0.82，与 PET/ 结合时 AUC 高达 0.91 CT。决策曲线分析和校准曲线表明列线图具有良好的一致性和临床实用性。

结论

在 OMAS 患者中，¹⁸ F-FDG PET/CT 在检测神经母细胞瘤肿瘤方面具有较高的诊断准确性，特别是与独立危险因素血清乳酸脱氢酶结合使用时。

图形概要