Department of Neurosurgery, Comprehensive Epilepsy Center, Wayne State University, Detroit Medical Center, Detroit, MI 48201, USA.
Neurosurg Focus. 2013 Jun;34(6):E6. doi: 10.3171/2013.3.FOCUS1355.
Hypothalamic hamartomas are uncommon but well-recognized developmental malformations that are classically associated with gelastic seizures and other refractory seizure types. The clinical course is often progressive and, in addition to the catastrophic epileptic syndrome, patients commonly exhibit debilitating cognitive, behavioral, and psychiatric disturbances. Over the past decade, investigators have gained considerable knowledge into the pathobiological and neurophysiological properties of these rare lesions. In this review, the authors examine the causes and molecular biology of hypothalamic hamartomas as well as the principal clinical features, neuroimaging findings, and electrophysiological characteristics. The diverse surgical modalities and strategies used to manage these difficult lesions are outlined in the second article of this 2-part review.
下丘脑错构瘤是一种不常见但已被充分认识到的发育性畸形，其经典表现为痴笑发作和其他难治性癫痫发作类型。其临床病程通常呈进行性发展，除灾难性癫痫综合征外，患者还常伴有认知、行为和精神障碍等致残性表现。在过去的十年中，研究人员对这些罕见病变的病理生物学和神经生理学特性有了相当的认识。在这篇综述中，作者检查了下丘脑错构瘤的病因和分子生物学，以及主要的临床特征、神经影像学发现和电生理学特征。在这篇综述的第二部分中，详细介绍了用于处理这些困难病变的各种手术方式和策略。
