Department of Neurosurgery, Comprehensive Epilepsy Center, Wayne State University, Detroit Medical Center, Detroit, MI 48201, USA.
Neurosurg Focus. 2013 Jun;34(6):E7. doi: 10.3171/2013.3.FOCUS1356.
Hypothalamic hamartomas are uncommon developmental heterotopic masses composed of an intermixed array of neurons, glia, and myelinated fibers closely associated with the mammillary bodies. Gelastic seizures, the hallmark feature of hypothalamic hamartomas, commonly present in early childhood. However, patients usually also display a disabling clinical syndrome, which may include various other types of refractory seizures with secondary generalization together with progressive cognitive, behavioral, and psychiatric dysfunction. The hamartoma itself has been unequivocally shown to be intrinsically epileptogenic. Over the past 2 decades there has been considerable effort to develop neurosurgical techniques to treat the epileptic syndrome effectively as well as to improve the neurocognitive and behavioral outcome.
下丘脑错构瘤是一种少见的先天性异位性发育肿块，由神经元、神经胶质和与乳头体密切相关的髓鞘纤维混合排列组成。下丘脑错构瘤的标志性特征是痴笑发作，通常在儿童早期出现。然而，患者通常还表现出一种致残的临床综合征，可能包括各种其他类型的难治性癫痫发作，伴有继发性全面发作，以及进行性认知、行为和精神功能障碍。错构瘤本身已被明确证明具有内在的致痫性。在过去的 20 年中，人们已经做出了相当大的努力来开发神经外科技术，以有效地治疗癫痫综合征，并改善神经认知和行为预后。
