儿童结节性硬化症合并癫临床特点分析

Clinical features of tuberous sclerosis complex in children with epilepsy

目的 探讨儿童结节性硬化症合并癫痫的临床特征。方法 对36例结节性硬化症合并癫痫患儿的临床资料进行分析。结果 所有患儿均以癫痫发作为首发症状,发病年龄〈1岁23例（63.89%）、1-3岁8例（22.22%）、〉3岁5例（13.89%）;发作类型以部分性发作[12例（33.33%）]、全面性发作[5例（13.89%）]、痉挛发作[7例（19.44%）]和混合性发作[12例（33.33%）]为主,其中伴智力低下或发育落后者19例（67.86%）。MRI可见室管膜下结节（30例）,部分病例[26例（86.67%）]伴皮质和皮质下结节、室管膜下巨细胞型星形细胞瘤2例（6.67%）或巨脑回畸形1例（3.33%）。脑电图显示发作间期样放电[34例（94.44%）],表现为多灶性放电[12例（35.29%）]、广泛性放电[8例（23.53%）]、局限性放电[7例（20.59%）]和高度失律[7例（20.59%）];其中8例监测到临床发作,包括痉挛发作（4例）、局灶性发作（3例）、肌阵挛发作（1例）。17例患儿（47.22%）服用1种抗癫痫药物、12例（33.33%）服用2种药物、7例（19.44%）服用3种药物,其中手术治疗1例;随访0.50~10年,无发作7例（19.44%）,有效16例（44.44%）,无效13例（36.11%）。结论 癫痫发作是儿童结节性硬化症最常见的神经系统表现,多在婴儿期发病,主要发作类型为部分性发作和痉挛发作,多数患儿抗癫痫药物治疗有效。

Objective To explore the clinical features of tuberous sclerosis complex （TSC） in children with epilepsy. Methods The clinical data of 36 TSC children complicated with epilepsy were analyzed retrospectively. Results All children had epilepsy as first symptom： 23 cases of seizures happened on age less than one year old （63.89%）, 8 cases on age 1-3 years old （22.22%）, and 5 cases on age more than 3 years old （13.89%）. Main attack types were as follows： 12 cases with focal seizures （33.33%）, 5 cases with generalized seizures （13.89%）, 7 cases with spasms （19.44%） and 12 cases （33.33%） with mixed seizures. Mental retardation was found in 19 cases （67.86%）. Among 30 cases who received brain MRI examination, all had subependymal nodules, 26 cases （86.67%） were complicated with cortical and subcortical nodules, 2 cases （6.67%） with subependymal giant cell astrocytoma （SEGA）, one case （3.33%） with pachygyria. EEG examination showed interictal epileptiform discharges in 34 cases （94.44%）, including multifocal discharges in 12 patients （35.29%）, generalized discharges in 8 patients （23.53%）, focal discharges and hypsarrhythmia in 7 patients （20.59%） respectively. Seizures were monitored in 8 patients, and the types included spasms in 4 cases, focal seizures in 3 cases, and myoclonic seizures in one case. Seventeen cases （47.22%） took one single antiepileptic drug, 12 cases （33.33%） took two drugs, and 7 cases （19.44%） took three drugs, while one of them underwent surgical treatment. After 0.50-10 year follow-up, seizures free happened in 7 cases （19.44%）, improved in 16 cases （44.44%）, and invalid in 13 cases （36.11%）. Conclusions Epilepsy is the most common nervous system performance in children TSC, and most seizures begin to happen in infants. The main types of onset are partial seizures and spasms. Most of the patients get improved with antiepileptic drugs.