Hemimegalencephaly:: Part 2.: Neuropathology suggests a disorder of cellular lineage
Hemimegalencephaly:: Part 2.: Neuropathology suggests a disorder of cellular lineage
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DOI：
10.1177/08830738030180111101
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发表时间：
2003-11-01
影响因子：
1.9
通讯作者：
Alvarez, A
中科院分区：
文献类型：
--
作者：
Flores-Sarnat, L;Sarnat, HB;Alvarez, A
使用组织化学和免疫细胞化学标记的神经元和胶质细胞的成熟和身份的大脑半球切除术在三个孩子（两个4个月大的女孩和一个4岁的男孩）与半侧巨脑畸形的脑组织进行了研究。除组织结构紊乱外，灰质和白色物质中均存在细胞生长和细胞形态学的组织学异常，包括“气球细胞”。不存在处于有丝分裂周期的细胞。许多具有增大突起的肥大、非典型细胞表现出混合或模糊的谱系，对胶质蛋白（胶质纤维酸性蛋白[GFAP]; S-100 β）和神经元蛋白（微管相关蛋白2 [MAP 2]、神经元核抗原、嗜铬粒蛋白A和神经丝蛋白[NFP]）均具有免疫反应性。强波形蛋白反应存在于神经元，以及神经胶质细胞和混合谱系的细胞，表明不完全成熟。突触素反应轴突终止于少数气球细胞和大多数异位的单个神经元的白色物质，证实了电子显微镜，表明单个异位神经元不是突触“孤立”，因为他们可能出现，因此，他们能够促成癫痫。至少在某些情况下，胶质细胞是受影响最小的细胞。这些发现让人想起结节性硬化症的错构瘤。我们的结论是，半侧巨脑畸形是一个主要的神经上皮细胞谱系和细胞生长的障碍。移行障碍导致组织结构紊乱，但这是继发性的，在孤立型和综合征型半侧巨脑畸形之间没有发现病理学差异。
Cerebral tissue from hemispherectomy in three children (two 4-month-old girls and one 4-year-old boy) with hemimegalencephaly was studied using histochemical and immunocytochemical markers of neuronal and glial maturation and identity. Histologic abnormalities of cellular growth and cytomorphology, including "balloon cells," were present in both gray and white matter, in addition to disorganized tissue architecture. Cells in the mitotic cycle were absent. Many hypertrophic, atypical cells with enlarged processes exhibited mixed or ambiguous lineage, with immunoreactivity for both glial (glial fibrillary acidic protein [GFAP]; S-100beta) and neuronal proteins (microtubule-associated protein 2 [MAP2], neuronal nuclear antigen, chromogranin A, and neurofilament protein [NFP]). Strong vimentin reactivity was present in neurons, as well as glial cells and cells of mixed lineage, suggesting incomplete maturation. Synaptophysin-reactive axons terminated on a minority of balloon cells and on most heterotopic single neurons in white matter, confirmed by electron microscopy, demonstrating that single heterotopic neurons are not synaptically "isolated," as they may appear; thus, they are capable of contributing to epilepsy. Ofigodendrocytes are the least affected cells, at least in some cases. The findings are reminiscent of the hamartomas of tuberous sclerosis. We conclude that hemimegalencephaly is a primary disorder of neuroepithelial lineage and cellular growth. A migratory disturbance contributes to disorderly tissue architecture but is secondary No pathologic difference is detected between isolated and syndromic forms of hemimegalencephaly.