Matyja Ewa, Grajkowska Wiesława, Marchel Andrzej, Rysz Andrzej, Majkowska-Zwolinska Beata
Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Am J Surg Pathol. 2007 Feb;31(2):322-5. doi: 10.1097/01.pas.0000213404.18311.c9.
An isolated, well-differentiated ectopic cerebellum arising outside the posterior fossa is extremely rare. We present a unique case of ectopic cerebellum in 25-year-old woman with hypertelorism, skull deformation, and a longstanding history of epileptic seizures. Magnetic resonance imaging revealed a mass lesion at the base of the frontal lobes with no apparent connections to the adjacent brain structures. Total resection of the lesion was performed. On gross inspection, its surface resembled cerebellar cortex with densely packed folia. Histologically, the cerebellar cortex was composed of well-differentiated external molecular, Purkinje cell, and internal granular cell layers. The deeper part of white matter displayed the features of neuroglial, hamartomatouslike abnormalities. There were numerous neuronal and/or glial heterotopias ranging from single dysplastic neurons to well-circumscribed clusters of neuronal and/or glial cells surrounded by neuropil. Some large neurons looked like mature ganglion cells, Purkinje cells, or dentate neurons. Large irregular islands of heterotopic tissue displaying well-differentiated cerebellar cortex could also be seen. Other parts of the ectopic cerebellum revealed loosening of tissue with dispersed glioneuronal elements. The ectopic brain tissue may arise from disturbed migration of primitive pluripotent stem cells during embryogenesis. The presented case of cerebellar ectopia associated with skull congenital malformations exhibited multiple dysontogenetic abnormalities. To our knowledge, this is the first report of totally isolated, well-differentiated ectopic cerebellum in the anterior cranial fossa accompanied by skull deformation and epilepsy.
后颅窝外孤立的、分化良好的异位小脑极为罕见。我们报告了一例独特的异位小脑病例,患者为一名25岁女性,有眼距过宽、颅骨变形及长期癫痫发作史。磁共振成像显示额叶底部有一肿块病变,与相邻脑结构无明显连接。对该病变进行了全切。大体检查时,其表面类似小脑皮质,有密集排列的小叶。组织学上,小脑皮质由分化良好的外分子层、浦肯野细胞层和内颗粒细胞层组成。白质深部显示出神经胶质、错构瘤样异常特征。存在大量神经元和/或胶质细胞异位,从单个发育异常神经元到由神经毡包绕的界限清楚的神经元和/或胶质细胞簇不等。一些大神经元类似成熟的神经节细胞、浦肯野细胞或齿状神经元。还可见到显示分化良好的小脑皮质的大的不规则异位组织岛。异位小脑的其他部分显示组织疏松,有散在的神经胶质神经元成分。异位脑组织可能源于胚胎发育过程中原始多能干细胞迁移紊乱。该例与颅骨先天性畸形相关的小脑异位表现出多种发育异常。据我们所知,这是首例前颅窝完全孤立、分化良好的异位小脑伴颅骨变形和癫痫的报告。