Mitha Alim P, Bullivant Kelly J, Lauzon Julie L, Hader Walter J
Department of Clinical Neurosciences, Alberta Children's Hospital, University of Calgary, Alberta, Canada.
J Neurosurg Pediatr. 2009 Oct;4(4):397-401. doi: 10.3171/2008.12.PEDS088.
Macrocephaly-cutis marmorata telangiectatica congenita is a rare overgrowth syndrome commonly associated with hydrocephalus. Although the pathophysiological characteristics of the hydrocephalus in this syndrome is not fully known, previous reports have described its treatment with ventriculoperitoneal shunt placement. The authors describe 2 cases of macrocephaly-cutis marmorata telangiectatica congenita successfully treated for progressive hydrocephalus with endoscopic third ventriculostomy. Both patients experienced clinical and radiographic stabilization following treatment, and these findings offer insight into the pathophysiology of the hydrocephalus and its ideal management.
巨头畸形 - 先天性大理石样皮肤毛细血管扩张症是一种罕见的过度生长综合征，通常与脑积水有关。尽管该综合征中脑积水的病理生理特征尚未完全明确，但既往报告已描述了采用脑室腹腔分流术进行治疗。作者描述了2例先天性大理石样皮肤毛细血管扩张症伴巨头畸形患者，通过内镜下第三脑室造瘘术成功治疗了进行性脑积水。两名患者在治疗后均实现了临床和影像学稳定，这些发现为脑积水的病理生理学及其理想治疗提供了见解。
