Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Epilepsia. 2010 Jul;51(7):1236-41. doi: 10.1111/j.1528-1167.2009.02474.x. Epub 2009 Dec 22.
Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox-Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation.
Two hundred ninety-one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p<0.0001) and LGS (p<0.0001). History of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (p<0.0001). Epilepsy remission correlated with better cognitive outcome (p<0.0001). TSC2 was a risk factor for IS and epilepsy; patients without an identified mutation were more likely to achieve remission.
Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome.
虽然癫痫影响大多数结节性硬化症（TSC）患者，但对于这种遗传性疾病的癫痫自然史知之甚少。
对 2002 年 1 月至 2008 年 10 月期间就诊的所有 TSC 患者进行回顾性图表审查。对婴儿痉挛症（IS）、非 IS 发作、难治性癫痫、Lennox-Gastaut 综合征（LGS）、抗癫痫药物使用、发病年龄、最后一次发作、最后一次就诊、临床发作表型、认知障碍和基因突变的病史进行了回顾。
共纳入 291 例患者。其中 37.8%有 IS 病史；85.2%有癫痫发作史；54.1%发展为多种发作类型，不包括 IS；63.2%的患者在生命的第一年发病；12.1%无癫痫发作史的成年人出现癫痫。在癫痫患者中，62.5%为难治性癫痫，33.5%为癫痫缓解；37.5%的患者达到药物自由。IS 是难治性癫痫（p<0.0001）和 LGS（p<0.0001）的危险因素。癫痫发作史、IS、发病年龄和难治性癫痫均与认知结局不良相关（p<0.0001）。癫痫缓解与更好的认知结局相关（p<0.0001）。TSC2 是 IS 和癫痫的危险因素；未发现突变的患者更有可能缓解。
大多数 TSC 患者会发展为癫痫，且大多数患者会发展为多种发作类型。发病通常发生在生命的第一年；然而，成年人仍有发病风险。尽管难治性癫痫很常见，但许多患者可以控制发作。癫痫发作史的许多特征都可以预测认知和癫痫结局。
