Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy.
Epilepsy Behav. 2012 May;24(1):7-13. doi: 10.1016/j.yebeh.2012.02.013. Epub 2012 Apr 11.
Hypothalamic hamartoma (HH) can be associated with a wide spectrum of epileptic conditions, ranging from a mild form with seizures characterized by urge to laugh and no cognitive involvement up to a catastrophic encephalopathy with early onset gelastic seizures (GS), precocious puberty, and mental retardation. Moreover, a refractory, either focal or generalized, epilepsy develops during the clinical course in nearly all the cases. Neurophysiologic and neuroimaging studies have demonstrated that HH itself generates GS and starts a process of secondary epileptogenesis responsible for refractory focal or generalized epilepsy. The intrinsic epileptogenicity of HH may be explained by the neurophysiological properties of small GABAergic, spontaneously firing HH neurons. Surgical ablation of HH can reverse epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery seem to be useful and safe approaches for treatment, in particular of small HH. Here, we review this topic, based on literature reports and our personal observations. In addition, we discuss pathogenetic hypotheses and suggest new approaches to this intriguing issue.
下丘脑错构瘤（HH）可与广泛的癫痫发作相关，范围从轻度发作，表现为大笑冲动而无认知障碍，到灾难性脑病，表现为早发性发笑发作（GS）、性早熟和智力障碍。此外，几乎所有病例在临床过程中都会发展为难治性、局灶性或全身性癫痫。神经生理和神经影像学研究表明，HH 本身会产生 GS，并启动继发性癫痫发生过程，导致难治性局灶性或全身性癫痫。HH 的内在致痫性可能与小 GABA 能、自发放电 HH 神经元的神经生理特性有关。HH 的手术消融可以逆转癫痫和脑病。伽玛刀放射外科和图像引导机器人放射外科似乎是有用和安全的治疗方法，特别是对于小 HH。在此，我们基于文献报告和我们的个人观察来回顾这个主题。此外，我们还讨论了发病假说，并对这一有趣的问题提出了新的方法。
