成人积水性无脑畸形临床特点分析

Clinical Characteristics of Patients with Adulthood Hydranencephaly

目的探讨成人积水性无脑畸形的病因、临床表现及影像学改变。方法回顾性分析2例成人积水性无脑畸形患者的临床特点。结果患者临床表现特殊,肢体运动功能受损较轻,1例轻度智力发育迟滞,2例患者均能融入社会生活,言语功能仍然正常。头颅CT和MRI一侧大脑实质大部分消失,代以脑脊液样组织。1例头颅MRA双侧大脑中动脉未见显影。结论成人积水型无脑畸形临床表现相对轻微,提示可能与胎儿时期的皮层重建有关。

Objective To investigate the pathogenesis, clinical characteristics and imageology of adulthood hydranencephaly.Methods The clinical characteristics of two patients with adulthood hydranencephaly were retrospectively analyzed.Results Patients with adulthood hydranencephaly were found to exhibit characteristics clinical features.The damage of motor function was mild.One of the patients had slightly intellectual impairment.All the two patients could integrate fully into the society and speech impairment was not found.CT and MRI scan demonstrated an absence of hemisphere, which was replaced by cerebrospinal fluid.Time-of-flight angiography demonstrated the absence of two middle cerebral arteries in one case.Conclusion The clinical characteristics of adulthood hydranencephaly were relatively mild.The disease may be related to the cortical reorganization during the fetal development.