Paetau A, Salonen R, Haltia M
Clin Neuropathol. 1985 Mar-Apr;4(2):56-62.
The Meckel syndrome (MS), relatively frequent in Finland, has been subjected to a nationwide study regarding the spectrum of anomalies, diagnostic criteria and epidemiology. This report describes the observations made on brain pathology in the 59 cases in the series. 10 cases were studied neuropathologically after formalin fixation of the brain. A spectrum of CNS malformations was seen with craniorachischisis totalis at the most severe end and a partial defect of corpus callosum as the only abnormality at the mildest end of the malformative spectrum. The most consistent malformation was occipital meningo-encephalocele, observed in 90% of the cases. Absence of olfactory bulbs was almost as frequent, while only two cases with a telencephalic holosphere were observed. Defects in midline commissuration (including absent or incomplete corpus callosum), associated with absence of the lateral ventricles, represented the third group of malformations common in MS. Polymicrogyria, heterotopias and characteristic, neuroepithelial rosettes were frequent microscopic features. Brain pathology in the Meckel syndrome thus displays a wide malformative spectrum with disturbances in both dorsal and ventral induction as well as in proliferation and migration. These findings suggest a heterochronic pathogenesis compatible with the genetic nature of this syndrome.
梅克尔综合征（MS）在芬兰较为常见，针对其异常谱、诊断标准和流行病学开展了一项全国性研究。本报告描述了该系列中59例病例的脑病理学观察结果。10例病例在脑用福尔马林固定后进行了神经病理学研究。观察到一系列中枢神经系统畸形，最严重的是全颅脊柱裂，畸形谱最轻微一端的唯一异常是胼胝体部分缺损。最常见的畸形是枕部脑膨出，在90%的病例中观察到。嗅球缺如几乎同样常见，而仅观察到2例端脑全囊肿病例。中线连合缺陷（包括胼胝体缺如或不完全），伴有侧脑室缺如，是梅克尔综合征中常见的第三组畸形。多小脑回、异位和特征性神经上皮玫瑰花结是常见的微观特征。因此，梅克尔综合征的脑病理学表现出广泛的畸形谱，在背侧和腹侧诱导以及增殖和迁移方面均有紊乱。这些发现提示了一种与该综合征遗传性质相符的异时性发病机制。
