Neuropathological analysis on pathogenesis in infantile spasms

在此之前，我们报告了常见的功能性脑干病变，包括无脑(Lis)和围产期缺氧缺血性脑病(HIE)合并婴儿痉挛(IS)和Lennox-Gastaut I综合征(LGS)。为了探讨IS和LGS的发病机制，我们用免疫组织化学方法检测了脑干和边缘系统中神经递质、神经肽、钙结合蛋白和/或谷氨酸转运体的表达。在同时患有癫痫综合征的LIS和HIE病例中，脑干和边缘系统的钙结合蛋白或谷氨酸转运体的表达没有发生IS/LGS特异性的变化。遗传性齿状核-苍白球萎缩伴难治性进行性肌阵挛癫痫和轻度脑发育不良伴IS而不伴LGS的脑干神经递质表达均降低，但与癫痫发作的严重程度无关。此外，严重残障患者的杏仁核损害与病因有关，但与癫痫发作的严重程度或海马区损害无关。提示IS和/或LGS的脑干病变可能比边缘病变更多地参与疾病的进展。

Previously, we reported the common functional brainstem lesions in the autopsy cases of lissencephaly (LIS) and perinatal hypoxic ischemic encephalopathy (HIE) having both infantile spasms (IS) and Lennox-Gastaut Isyndrome (LGS). To investigate the pathogenesis of IS and LGS, we immunohistochemically examined the expression of neiuotransmitters, neuropeptides, calcium-binding proteins and/or glutamate transporters in the brainstem and limbic system in child autopsy cases. In cases of LIS and HIE suffering from both epileptic syndromes, there were no IS/LGS-specific changes in the expressions of either calcium-binding proteins or glutamate transporters in the brainstem and limbic system. The brainstem showed reduced expressions of neurotransmitters in both the cases of hereditary dentatorubral-pallidoluysian atrophy suffering from another refractory progressive myoclonic epilepsy and the cases of subtle cerebral dysgenesis having IS but not LGS, although the changes were not related to the severity of epileptic seizures. In addition, the amygdaloid lesions in the severely handicapped were clarified to have relationships with the etiology but not either the severity of epileptic seizures or the hippocampal lesions. It is suggested that the brainstem lesions in IS and/or LGS can be involved in the disease progression more than the limbic lesions.