Paulson David, Hwang Steven W, Whitehead William E, Curry Daniel J, Luerssen Thomas G, Jea Andrew
Division of Pediatric Neurosurgery, Texas Children's Hospital, Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, USA.
J Med Case Rep. 2012 Jan 11;6:7. doi: 10.1186/1752-1947-6-7.
Aqueductal stenosis may be caused by a number of etiologies including congenital stenosis, tumor, inflammation, and, very rarely, vascular malformation. However, aqueductal stenosis caused by a developmental venous anomaly presenting as congenital hydrocephalus is even more rare, and, to the best of our knowledge, has not yet been reported in the literature. In this study, we review the literature and report the first case of congenital hydrocephalus associated with aqueductal stenosis from a developmental venous anomaly.
The patient is a three-day-old, African-American baby girl with a prenatal diagnosis of hydrocephalus. She presented with a full fontanelle, splayed sutures, and macrocephaly. Postnatal magnetic resonance imaging showed triventricular hydrocephalus, suggesting aqueductal stenosis. Examination of the T1-weighted sagittal magnetic resonance imaging enhanced with gadolinium revealed a developmental venous anomaly passing through the orifice of the aqueduct. We treated the patient with a ventriculoperitoneal shunt.
Ten cases of aqueductal stenosis due to venous lesions have been reported and, although these venous angiomas and developmental venous anomalies are usually considered congenital lesions, all 10 cases became symptomatic as older children and adults. Our case is the first in which aqueductal stenosis caused by a developmental venous anomaly presents as congenital hydrocephalus. We hope adding to the literature will improve understanding of this very uncommon cause of hydrocephalus and, therefore, will aid in treatment.
导水管狭窄可能由多种病因引起，包括先天性狭窄、肿瘤、炎症，以及极为罕见的血管畸形。然而，由发育性静脉异常导致的导水管狭窄并表现为先天性脑积水的情况更为罕见，据我们所知，文献中尚未有相关报道。在本研究中，我们回顾了文献并报告了首例因发育性静脉异常导致导水管狭窄并伴有先天性脑积水的病例。
患者是一名3天大的非裔美国女婴，产前诊断为脑积水。她表现为囟门饱满、颅缝增宽和巨头畸形。产后磁共振成像显示三脑室脑积水，提示导水管狭窄。钆增强的T1加权矢状位磁共振成像检查显示有一个发育性静脉异常穿过导水管口。我们对该患者进行了脑室腹腔分流术治疗。
已有10例因静脉病变导致导水管狭窄的病例报道，尽管这些静脉血管瘤和发育性静脉异常通常被认为是先天性病变，但所有10例病例均在儿童及成人期出现症状。我们的病例是首例因发育性静脉异常导致导水管狭窄并表现为先天性脑积水的病例。我们希望通过补充文献能增进对这种非常罕见的脑积水病因的理解，从而有助于治疗。
