诊断：无脑回
鉴别诊断：
1 型无脑回畸形：1 型或典型无脑回是一种先天性畸形,由于神经元迁移紊乱皮质光滑,并缺乏正常的脑回和脑沟结构皮质可表现弥漫性(无脑回)或局灶性回)受累。当弥漫性受累时,脑组织呈“8”形,缺乏正常脑回和脑沟结构,外侧裂垂直于表面。在病理学上,弥漫性受累表现为增厚且光滑的四层皮质结构,以及皮质下带状灰质异而非正常的六层皮质结构。1 型无脑回畸形可与巨细胞病毒感染、米一迪综合征( Milleer svndrome)和脑发育异常有关。巨细胞病染后,可发现脑室周及脑实质内钙化。在米一综合征患者,可见中线钙化、小头畸形和特的颜面部畸形。
Gyri 1: gyri 1, or typical gyri 1, is a congenital malformation that involves diffuse (gyri) or focal gyri involvement due to a disturbance of neuronal migration with a smooth cortex and a lack of normal gyri and sulci structures. When diffusely involved, the brain tissue presents an '8' shape, lacks normal gyri and sulci structures, and the lateral fissure is perpendicular to the surface. Pathologically, diffuse involvement appears as a thickened and smooth four-layer cortical structure and an abnormal six-layer cortical structure of subcortical zonal gray matter. Gylencephalopathy type 1 is associated with cytomegalovirus infection, Milleer svndrome syndrome, and abnormal brain development. Calcification can be found around the ventricle and in the brain parenchyma after giant cell infection. Midline calcification, microcephaly, and facial deformity are seen in patients with miyi syndrome.
2 型无脑回畸形：
2 型无脑回畸形又称“鹅卵石”样无脑回畸形,其特征性表现元迁移过度、灰质严重紊乱、脑回和脑沟常和弥漫性白质脱髓鞘。紊乱的灰质形成的、“鹅卵石”样大脑皮质。本病与先天性肌营养不良有关,包括Walker- Warburg 综合征和福山型先天性肌营养不良(FCMD),而肌-眼一脑病(MEBD)与本病的相关程度较轻。患者在幼年即表现出严重的肌无力、视力障碍、发育迟缓或智力低下,以及与脑畸形相关的症状。Walker Warburg 综合征患者常有以下特征,如枕叶膨出小脑和脑干发育异常,以及在影像学矢状位上显示的典型“眼镜蛇”样脑干扭曲。在本病患者,绝大多数可见脑积水。
Type 2 anencephaly, also known as 'cobble' anencephaly, is characterized by excessive meta-migration, severe gray matter disorder, normal and diffuse white matter demyelination in the gyrus and sulcus. A 'cobblestone' - like cortex of disordered gray matter. This disease is associated with congenital muscular dystrophy, including Walker- Warburg syndrome and fukuyama congenital muscular dystrophy (FCMD), while myo-ophthalmoencephalopathy (MEBD) is less associated with this disease. Patients show severe muscle weakness, visual impairment, developmental delays or mental retardation, and symptoms associated with brain malformation at an early age. Patients with Walker Warburg syndrome often have features such as abnormal development of the occipital lobe protuberant cerebellum and brainstem, as well as typical 'cobra' -like brainstem distortion shown in the sagittal position. In patients with this disease, the vast majority of hydrocephalus can be seen.
带状灰质异位：
灰质异位是指神经元在异常部位无序聚集,这是由于正常神经元的迁移被提前中断。神经元从侧脑室的室管膜向皮质周围迁移,然后排列为正常的六层皮质结构。如果迁移过程发生中断,就会出现灰质异位。灰质异位可分为结节状(最常见)或带状。结节状灰质异位常见于侧脑室边缘,而带状灰质异位则呈条带状,位于脑皮质下或白质深部。当表现为弥漫性且位于脑皮质下时带状灰质异位与无脑回畸形相似。典型的患者表现为癫痫发作、发育迟缓和痉挛。
Heterotopia of zonal gray matter refers to the disordered aggregation of neurons in abnormal areas, which is due to the early interruption of the migration of normal neurons. Neurons migrate from the ependymal membrane of the lateral ventricle to the periphery of the cortex, and then arrange into a normal six-layer cortical structure. If the migration process is interrupted, heterotopia of gray matter will occur. Heterotopia of gray matter can be classified as nodular (most common) or banded. Nodular gray matter heterotopia is common in the lateral ventricle margin, while banded gray matter heterotopia is banded and located under the cortex or deep in the white matter. Zonal gray matter heterotopia is similar to anencephaly when it appears diffuse and subcortical. Patients typically present with seizures, developmental delays, and spasms.
