[Long term survival of holoprosencephaly with shunting procedure (author's transl)].

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.