Gilbert J N, Jones K L, Rorke L B, Chernoff G F, James H E
Neurosurgery. 1986 May;18(5):559-64. doi: 10.1227/00006123-198605000-00008.
Complete gross and microscopic neuropathological examinations of 25 children who died with meningomyelocele, the Arnold-Chiari malformation, and hydrocephalus revealed a wide range and frequency of associated central nervous system malformations. The most remarkable of these anomalies were hypoplasia or aplasia of cranial nerve nuclei (20%), demonstrable obstruction of cerebrospinal fluid flow within the ventricular system (92%), cerebellar dysplasia (72%), a disorder of migration of cortical neurons (92%), fusion of the thalami (16%), agenesis of the corpus callosum (12%), and complete or partial agenesis of the olfactory tract and bulb (8%). The anomalies associated with posterior neural tube closure defects can no longer be considered secondary, but rather must be considered part of a spectrum of malformations caused by an unidentified primary insult to the central nervous system. The frequency and pattern of brain malformations associated with neural tube defects of some children with meningomyelocele suggest that such malformations may seriously affect intellectual outcome.
对25例死于脊髓脊膜膨出、阿诺德 - 基亚里畸形和脑积水的儿童进行了全面的大体和微观神经病理学检查，结果显示相关中枢神经系统畸形的范围广泛且频率较高。这些异常中最显著的是颅神经核发育不全或缺失（20%）、脑室系统内脑脊液流动明显受阻（92%）、小脑发育异常（72%）、皮质神经元迁移障碍（92%）、丘脑融合（16%）、胼胝体发育不全（12%）以及嗅束和嗅球完全或部分缺失（8%）。与后神经管闭合缺陷相关的异常不能再被视为继发性的，而必须被视为由中枢神经系统未明确的原发性损伤引起的一系列畸形的一部分。一些患有脊髓脊膜膨出的儿童中与神经管缺陷相关的脑畸形的频率和模式表明，此类畸形可能严重影响智力发育结果。
