Sarnat H B, Darwish H Z, Barth P G, Trevenen C L, Pinto A, Kotagal S, Shishikura K, Osawa M, Korobkin R
Department of Pathology, University of Calgary Faculty of Medicine, Alberta, Canada.
J Neuropathol Exp Neurol. 1993 Sep;52(5):525-41. doi: 10.1097/00005072-199309000-00011.
The ependyma was examined in eight children with neuroblast migratory disorders of diverse origin: three cases of lissencephaly type 1 with severe to mild degrees of agyria/pachygyria, four cases of lissencephaly type 2 in Fukuyama muscular dystrophy and the Walker-Warburg syndrome, and one case of hemimegalencephalic pachygyria. Morphological and immunohistochemical abnormalities of the ependyma were strikingly similar in all. Discontinuities were disproportionate to the degree of ventriculomegaly. In some regions, the ependyma remained a pseudostratified columnar epithelium, though basal processes were absent. The poles of the horns of the lateral ventricles were replaced by extensive heterotopic ependymal rosettes. Rosettes and rows of ependyma also were in other subventricular sites. Subependymal nodules of large astrocytes and their processes bulged into the ventricular lumen after infancy. Ependymal cells did not express glial fibrillary acidic protein, but showed persistent expression of S-100 protein, cytokeratin CK-904 and sometimes vimentin long after these proteins normally disappear. An abnormal ependyma in lissencephaly/pachygyria may contribute to disturbances in neuronogenesis, guidance of axonal projections and neuroblast migrations; it may be a primary factor in pathogenesis.
对8例不同病因的神经母细胞迁移障碍患儿的室管膜进行了检查：3例1型无脑回畸形，程度从重度到轻度的无脑回/巨脑回；4例福山型肌营养不良和沃克 - 沃尔堡综合征中的2型无脑回畸形；以及1例半侧巨脑回畸形伴巨脑回。所有病例中室管膜的形态学和免疫组化异常都极为相似。室管膜的连续性中断与脑室扩大程度不成比例。在一些区域，室管膜仍为假复层柱状上皮，但无基底突起。侧脑室角的两极被广泛的异位室管膜玫瑰花结所取代。玫瑰花结和室管膜排也见于其他脑室下部位。婴儿期后，大星形胶质细胞及其突起形成的室管膜下结节突入脑室腔。室管膜细胞不表达胶质纤维酸性蛋白，但在这些蛋白通常消失很长时间后仍持续表达S - 100蛋白、细胞角蛋白CK - 904，有时还表达波形蛋白。无脑回/巨脑回畸形中的异常室管膜可能导致神经发生、轴突投射导向和神经母细胞迁移的紊乱；它可能是发病机制中的一个主要因素。
