Specchio Nicola, Pepi Chiara, De Palma Luca, Trivisano Marina, Vigevano Federico, Curatolo Paolo
Rare and Complex Epilepsy Unit, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
Expert Rev Neurother. 2021 Nov;21(11):1333-1345. doi: 10.1080/14737175.2021.1906651. Epub 2021 Mar 31.
: Malformation of cortical development (MCD) is strongly associated with drug-resistant epilepsies for which surgery to remove epileptogenic lesions is common. Two notable technological advances in this field are identification of the underlying genetic cause and techniques in neuroimaging. These now question how presurgical evaluation ought to be approached for 'mTORpathies.': From review of published primary and secondary articles, the authors summarize evidence to consider focal cortical dysplasia (FCD), tuber sclerosis complex (TSC), and hemimegalencephaly (HME) collectively as MCD mTORpathies. The authors also consider the unique features of these related conditions with particular focus on the practicalities of using neuroimaging techniques currently available to define surgical targets and predict post-surgical outcome. Ultimately, the authors consider the surgical dilemmas faced for each condition.: Considering FCD, TSC, and HME collectively as mTORpathies has some merit; however, a unified approach to presurgical evaluation would seem unachievable. Nevertheless, the authors believe combining genetic-centered classification and morphologic findings using advanced imaging techniques will eventually form the basis of a paradigm when considering candidacy for early surgery.
皮质发育畸形（MCD）与耐药性癫痫密切相关，对于此类耐药性癫痫，切除致痫灶的手术很常见。该领域两项显著的技术进步是潜在遗传病因的识别和神经影像学技术。现在这些技术对“mTOR病”的术前评估应如何进行提出了质疑。
通过对已发表的原发性和继发性文章的回顾，作者总结了证据，将局灶性皮质发育不良（FCD）、结节性硬化症（TSC）和半侧巨脑症（HME）统称为MCD mTOR病。作者还考虑了这些相关病症的独特特征，特别关注使用当前可用的神经影像学技术来确定手术靶点和预测术后结果的实际情况。最终，作者考虑了每种病症所面临的手术困境。
将FCD、TSC和HME统称为mTOR病有一定的价值；然而，术前评估的统一方法似乎无法实现。尽管如此，作者认为，在考虑早期手术的候选资格时，结合以基因为中心的分类和使用先进成像技术的形态学发现最终将形成一种范例的基础。
