Neuropathological analysis on pathogenesis in infantile spasms

本文报道了无脑畸形（LIS）和围产期缺氧缺血性脑病（HIE）尸检中常见的功能性脑干病变，它们同时伴有婴儿痉挛（IS）和Lennox-Gastaut综合征（LGS）。为了探讨IS和LGS的发病机制，我们用化学方法检测了儿童尸检病例脑干和边缘系统神经递质、神经肽、钙结合蛋白和/或谷氨酸转运体的表达。在患有两种癫痫综合征的LIS和HIE病例中，脑干和边缘系统中的钙结合蛋白或谷氨酸转运体的表达没有IS/LGS特异性变化。脑干神经递质的表达减少的情况下，遗传性齿状核红核苍白球路易体萎缩患有另一个难治性进行性肌阵挛性癫痫和微妙的大脑发育不全的情况下，有IS，但没有LGS，虽然变化是不相关的癫痫发作的严重程度。此外，严重残疾者的杏仁核损害与病因有关，而与癫痫发作的严重程度或海马损害无关。提示IS和/或LGS的脑干病变可能比边缘系统病变更参与疾病的进展。

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.