Shime H, Araki R, Koide H, Miyaji T, Shioda K
Department of Pediatrics, Saitama Medical School.
No To Hattatsu. 1992 Jul;24(4):353-7.
We report a patient with the Klippel-Trenaunay-Weber syndrome accompanied by congenital hydrocephalus, which was slowly progressive and an Ommaya's reservoir was set up. However, the hydrocephalus remained stable even when the shunt was removed due to infection. Generalized tonic clonic convulsions had appeared from six months after birth and were treated with valproic acid. The electroencephalogram showed hypsarrhythmia. He died at eight months of age. Autopsy revealed extensive micropolygyria of the bilateral cerebral hemispheres and hydrocephalus. To our knowledge, it is rare for the Klippel-Trenaunay-Weber syndrome to be accompanied by congenital hydrocephalus, and there has been no previous report of its occurrence with micropolygyria.
我们报告一例患有克-特-韦综合征并伴有先天性脑积水的患者，该脑积水呈缓慢进展，已置入奥马亚贮液器。然而，即便因感染移除分流装置后，脑积水仍保持稳定。患者自出生后六个月起出现全身性强直阵挛性惊厥，接受丙戊酸治疗。脑电图显示高峰节律紊乱。患者于八个月大时死亡。尸检发现双侧大脑半球广泛存在微小多脑回畸形及脑积水。据我们所知，克-特-韦综合征伴有先天性脑积水的情况较为罕见，且此前尚无其合并微小多脑回畸形的报道。
