Department of Neurology, Cairo University, Cairo, Egypt.
Eur J Paediatr Neurol. 2011 Mar;15(2):131-7. doi: 10.1016/j.ejpn.2010.07.010.
Tuberous sclerosis complex (TSC) is a multi-systemic disorder that involves primarily CNS, skin, kidney and heart. The aim of this study is to determine whether seizures type, interictal EEGs and tubers burden in MRI are correlated to seizure and intellectual outcome, and to identify the clinical risk factors for mental retardation and developing autism in these patients.
This was a prospective study that was conducted on 30 Egyptian children with tuberous sclerosis complex (TSC), diagnosed according to the criteria of National Institutes of Health consensus conference revised the diagnostic criteria for TSC. All patients underwent clinical and psychometric evaluation, interictal EEG, and MRI brain.
We found that poor intellectual outcome is related to early onset of seizures, infantile spasms, severely epileptogenic EEG findings and tuber burden on the Left side. Autistic behavior is related to seizure type (more with infantile spasms), severely epileptogenic EEG findings, frontal location of tubers and higher number of tubers (>8).
结节性硬化症（TSC）是一种多系统疾病，主要涉及中枢神经系统、皮肤、肾脏和心脏。本研究旨在确定癫痫发作类型、发作间期脑电图和磁共振成像（MRI）中的结节负担与癫痫发作和智力结局是否相关，并确定这些患者智力迟钝和自闭症发展的临床危险因素。
这是一项前瞻性研究，对 30 名埃及结节性硬化症（TSC）患儿进行了研究，这些患儿根据美国国立卫生研究院共识会议修订的 TSC 诊断标准进行了诊断。所有患者均接受了临床和心理评估、发作间期脑电图和脑 MRI 检查。
我们发现，智力结局较差与癫痫发作早期、婴儿痉挛、癫痫样脑电图发现严重和左侧结节负担有关。自闭症行为与癫痫发作类型（婴儿痉挛更多）、癫痫样脑电图发现严重、额叶结节位置和结节数量较多（>8 个）有关。
