Kuzniecky R, Guthrie B, Mountz J, Bebin M, Faught E, Gilliam F, Liu H G
University of Alabama at Birmingham Epilepsy Center, Department of Neurology 35294, USA.
Ann Neurol. 1997 Jul;42(1):60-7. doi: 10.1002/ana.410420111.
Hypothalamic hamartomas and gelastic seizures are often associated with cognitive deterioration, behavioral problems, and poor response to anticonvulsant treatment or cortical resections. The origin and pathophysiology of the epileptic attacks are obscure. We investigated 3 patients with this syndrome and frequent gelastic seizures. Ictal single-photon emission computed tomography performed during typical gelastic seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without cortical or cerebellar hyperperfusion. Electroencephalographic recordings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the hamartoma in 1 patient. Electrical stimulation studies reproduced the typical gelastic events. Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure remission without complications 20 months after surgery. The functional imaging findings, electrophysiological data, and results of radiofrequency surgery indicate that epileptic seizures in this syndrome originate and propagate from the hypothalamic hamartoma and adjacent structures.
下丘脑错构瘤与痴笑性癫痫常伴有认知功能恶化、行为问题，以及对抗惊厥治疗或皮质切除术反应不佳。癫痫发作的起源和病理生理学尚不清楚。我们对3例患有该综合征且频繁出现痴笑性癫痫的患者进行了研究。在典型痴笑性癫痫发作期间进行的发作期单光子发射计算机断层扫描显示，错构瘤、下丘脑区域和丘脑有血流灌注增加，而皮质或小脑无血流灌注增加。将深度电极植入错构瘤进行脑电图记录显示，1例患者的癫痫发作起源于错构瘤。电刺激研究重现了典型的痴笑性发作事件。错构瘤的立体定向射频毁损术在术后20个月使癫痫发作缓解，且无并发症。功能成像结果、电生理数据和射频手术结果表明，该综合征中的癫痫发作起源于下丘脑错构瘤及相邻结构，并由此传播。
