Department of Neurology, NYU School of Medicine, New York, New York.
Pediatr Neurol. 2019 Nov;100:12-25. doi: 10.1016/j.pediatrneurol.2019.07.003. Epub 2019 Jul 17.
Application of molecular neuroimaging using positron emission tomographic techniques to assess pediatric neurodegenerative disorders has been limited, unlike in adults where positron emission tomography has contributed to clinical diagnosis, monitoring of neurodegenerative disease progression, and assessment of novel therapeutic approaches. Yet, there is a huge unexplored potential of molecular imaging to improve our understanding of the pathophysiology of neurodegenerative disorders in children and provide radiological biomarkers that can be applied clinically. The obstacles in performing PET scans on children include sedation, radiation exposure, and access but, as will be illustrated, these barriers can be easily overcome. This review summarizes findings from PET studies that have been performed over the past three decades on children with various neurodegenerative disorders, including the neuronal ceroid lipofuscinoses, juvenile Huntington disease, Wilson disease, Niemann-Pick disease type C, Dravet syndrome, dystonia, mitochondrial disorders, inborn errors of metabolism, lysosomal storage diseases, dysmyelinating disorders, Rett syndrome, neurotransmitter disorders, glucose transporter Glut 1 deficiency, and Lesch-Nyhan disease. Because positron emission tomographic scans have often been clinically useful and have contributed to the management of these disorders, we suggest that the time has come for glucose metabolism positron emission tomographic scans to be reimbursed by insurance carriers for children with neurodegenerative disorders, and not restricted only to epilepsy surgery evaluation.
应用正电子发射断层扫描技术进行分子神经影像学检查来评估儿科神经退行性疾病的应用一直受到限制，而在成人中，正电子发射断层扫描有助于临床诊断、监测神经退行性疾病的进展，并评估新的治疗方法。然而，分子成像具有巨大的尚未开发的潜力，可以帮助我们更好地了解儿童神经退行性疾病的病理生理学，并提供可应用于临床的放射学生物标志物。在儿童中进行正电子发射断层扫描的障碍包括镇静、辐射暴露和获取，但正如将说明的那样，这些障碍可以很容易地克服。这篇综述总结了过去三十年在患有各种神经退行性疾病的儿童中进行的正电子发射断层扫描研究结果，包括神经元蜡样质脂褐质沉积症、青少年亨廷顿病、威尔逊病、尼曼-皮克病 C 型、Dravet 综合征、肌张力障碍、线粒体疾病、先天性代谢缺陷、溶酶体贮积病、脱髓鞘疾病、雷特综合征、神经递质疾病、葡萄糖转运蛋白 Glut1 缺乏症和 Lesch-Nyhan 病。由于正电子发射断层扫描检查在临床上通常是有用的，并有助于这些疾病的治疗，因此我们建议，现在是时候让保险公司为患有神经退行性疾病的儿童报销葡萄糖代谢正电子发射断层扫描检查费用，而不仅仅限于癫痫手术评估。
