Kitahara M, Kayama T, Kodama N, Takaku A, Suzuki J
No Shinkei Geka. 1982 Jan;10(1):91-6.
A long survived case of holoprosencephaly with hydrocephalus has been infrequently reported in the literature. One such case were presented on this report. This male baby by cesarean section because of his large head circumferenced 45 cm. He was admitted to our clinic diagnosed as congenital hydrocephalus at the third day from birth. On admission the circumference of his head was measured 49 cm, but other external malformations were not noticed. Right transaxillary carotid angiogram showed anterior cerebral artery appeared like azygos anterior cerebral artery. Absence of falx and fornix were suspected pneumoventriculography and transillumination of the head. Finally he was diagnosed as holoprosencephaly accompanied with hydrocephalus by computed tomography. Ventriculo-peritoneal shunt was performed at the 22nd day of his life. On follow-up after discharge, mental and motor development was not so poor. He was able to speak a few of simple words one year after discharge. At present 4 years and 6 months after discharge, he can do simple conversation and walk with assistance. Repeated computed tomography shows the frontal cerebral mantle is thickening in 36 mm at present. Good resulted case of holoprosencephaly as presented here could not be found in the literature. The pathogenesis and treatment were also discussed here.
文献中鲜有关于全前脑畸形伴脑积水的长期存活病例报道。本报告展示了这样一个病例。该男婴因头围大（45厘米）经剖宫产出生。出生第三天因诊断为先天性脑积水入住我院。入院时测得头围49厘米，但未发现其他外部畸形。右腋下颈动脉血管造影显示大脑前动脉呈奇静脉大脑前动脉样。通过气脑造影和头部透照怀疑大脑镰和穹窿缺如。最终经计算机断层扫描诊断为全前脑畸形伴脑积水。患儿出生第22天行脑室 - 腹腔分流术。出院后随访发现，其智力和运动发育情况并非很差。出院一年后能说一些简单的词语。目前出院4年6个月，他能进行简单对话并在协助下行走。重复计算机断层扫描显示目前额叶脑皮质增厚至36毫米。文献中未发现如此良好转归的全前脑畸形病例。本文还讨论了其发病机制和治疗方法。
