Iannetti P, Chessa L, Raucci U, Basile L A, Fantozzi L M, Bozzao L
Department of Pediatrics, University La Sapienza Rome, Italy.
Clin Pediatr (Phila). 1992 Aug;31(8):467-70. doi: 10.1177/000992289203100804.
Gelastic (laughing) epilepsy, relatively uncommon, is usually associated with hypothalamic hamartomas, pituitary tumors, astrocytomas of the mammillary bodies, and dysraphic conditions. Cases of unknown etiology are rare. In three of the four cases reported here, the diagnoses were hamartoma of the tuber cinereum; lobar holoprosencephaly; and lissencephaly type I, grade 2. In the fourth, radiographic investigation gave a normal result; a genetic etiology was suggested because of bilateral familial idiopathic epilepsy. In all patients, EEGs showed both focal spikes and generalized spike-and-wave discharges. The primary underlying neurophysiologic disorder may be provoked by the diffuse hyperexcitability of the cortex and subsequent firing of the thalamocortical networks with which the cortical brain is reciprocally interlinked.
痴笑性癫痫相对少见，通常与下丘脑错构瘤、垂体瘤、乳头体星形细胞瘤及神经管闭合不全有关。病因不明的病例较为罕见。在此报告的4例病例中，3例诊断为灰结节错构瘤、叶型全前脑畸形和Ⅰ型无脑回畸形2级。第4例影像学检查结果正常，因双侧家族性特发性癫痫提示有遗传病因。所有患者的脑电图均显示局灶性尖波和全身性尖慢波放电。原发性潜在神经生理障碍可能是由皮质的弥漫性过度兴奋以及随后与皮质脑相互连接的丘脑皮质网络的放电所诱发的。
