Departments of Pediatrics and Neurology, University of Cincinnati College of Medicine and Division of Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue ML #2015, Cincinnati, OH, 45229, USA,
Curr Treat Options Neurol. 2013 Oct;15(5):618-33. doi: 10.1007/s11940-013-0249-2.
Historically, before the advent of modern imaging and genetic testing, Tuberous Sclerosis Complex (TSC) was more of a diagnostic challenge and less of a treatment challenge. This is because the natural history of TSC was poorly understood and TSC-specific treatments were non-existent. In the current era, diagnosis is more straightforward but management is much more complex. Disease manifestations vary by age, severity, and organ system. Management issues in the first few months of life, including neurologic manifestations, are very different than late childhood, adolescence, and adulthood. With increasing numbers of TSC diagnoses being made prenatally or shortly after birth, the opportunity for interventions that may improve long-term developmental and epilepsy outcomes now may precede the onset of neurological clinical symptoms. Familiarity and anticipation of these neurologic complications and rapid response to their emergence is crucial. Periodic imaging surveillance for development of subependymal giant cell astrocytoma (SEGA), preferably by magnetic resonance imaging (MRI) every 1-3 years, is now standard of care. Early SEGA detection provides opportunity to initiate pharmacologic treatment with everolimus if appropriate, thereby negating the need for invasive surgery. Routine electroencephalography (EEG) in asymptomatic infants for the first year or two of life is becoming increasingly accepted, with treatment initiation of vigabatrin dependent on concerning EEG findings instead of waiting until onset of clinical seizures, the traditional approach. Effective SEGA treatment and optimal seizure control remain principal during the first few decades of life for the clinical neurologist involved in the management of TSC. However, during the same period and extending through adulthood, assessment of TSC-associated neuropsychiatric disorder (TAND) is also key to the best clinical outcome and quality of life for affected individuals and their surrounding family and caregivers.
在现代影像学和基因检测出现之前，结节性硬化症（TSC）更多的是一种诊断挑战，而不是治疗挑战。这是因为 TSC 的自然病史了解甚少，而且也没有专门针对 TSC 的治疗方法。在当前时代，诊断更为直接，但管理却复杂得多。疾病表现因年龄、严重程度和器官系统而异。生命头几个月的管理问题，包括神经系统表现，与儿童后期、青春期和成年期有很大不同。随着越来越多的 TSC 诊断在产前或出生后不久做出，可能改善长期发育和癫痫结局的干预机会现在可能先于神经系统临床症状出现。熟悉和预测这些神经系统并发症，并对其迅速做出反应至关重要。定期进行磁共振成像（MRI）监测，以观察室管膜下巨细胞星形细胞瘤（SEGA）的发展，目前是标准的护理措施，每 1-3 年进行一次。早期发现 SEGA 有机会在适当的情况下开始使用依维莫司进行药物治疗，从而避免了需要进行侵入性手术。无症状婴儿在前一两年的常规脑电图（EEG）检查越来越被接受，根据 EEG 的结果开始使用氨己烯酸治疗，而不是等到出现临床癫痫发作再开始治疗，这是传统的方法。对于参与 TSC 管理的临床神经科医生来说，有效的 SEGA 治疗和最佳的癫痫控制仍然是生命早期的主要目标。然而，在同一时期并延伸到成年期，评估 TSC 相关的神经精神障碍（TAND）也是受影响个体及其周围家庭和照顾者获得最佳临床结果和生活质量的关键。
