Introduction

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.

Background

Neuroimaging is crucial for early diagnosis, monitoring, and management of these patients. While computed tomography is generally used as first-line investigation at emergency department, magnetic resonance imaging is the reference method to define central nervous system involvement and investigate subtle pathophysiological alterations in TSC patients.

Purpose

Here, we review the state-of-the-art knowledge in TSC brain imaging, describing conventional findings and depicting the role of advanced techniques in providing new insights on the disease, also offering an overview on future perspectives of neuroimaging applications for a better understanding of disease pathophysiology.

中文翻译：

---

结节性硬化症的神经影像学检查。

介绍

结节性硬化症复合物（TSC）是一种罕见的常染色体显性遗传疾病，由于TSC1或TSC2 mTOR途径基因的失活而影响多个系统。在约95％的病例中观察到神经系统表现，这是发病率最高的原因，也是最常见的死亡原因之一。

背景

神经成像对于这些患者的早期诊断，监测和管理至关重要。尽管计算机断层扫描通常被用作急诊科的一线检查，但磁共振成像是确定中枢神经系统受累程度并研究TSC患者微妙的病理生理改变的参考方法。

目的

在这里，我们回顾了TSC脑成像的最新知识，描述了常规发现并描述了先进技术在提供有关疾病的新见解方面的作用，还概述了神经成像应用的未来观点，以便更好地了解疾病的病理生理学。