Roth Jonathan, Constantini Shlomi, Cinalli Giuseppe
Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel-Aviv Medical Center, Tel-Aviv University, 6 Weizman Street, 64239, Tel-Aviv, Israel.
The Gilbert Israeli International Neurofibromatosis Center GIINFC, Tel-Aviv, Israel.
Childs Nerv Syst. 2020 Oct;36(10):2385-2390. doi: 10.1007/s00381-020-04719-y. Epub 2020 Jun 6.
The prevalence of hydrocephalus among patients with neurofibromatosis type I (NF1) is estimated to be between 1 and 13%. Most hydrocephalic causes are obstructive-aqueductal webs, chiasmatic-hypothalamic tumors, and thalamic mass effect related to NF changes. Other NF1-related conditions may mimic the clinical presentation of hydrocephalus and should be ruled out while evaluating children with headaches. These include brain tumors and moyamoya syndrome. Treatment of NF1-related hydrocephalus should be personally tailored, including tumor resection or debulking, shunts, and endoscopic procedures such as septostomy and third ventriculostomy. Despite these personalized treatments, many of the primary treatments (including shunts and endoscopic procedures) fail, and patients should be screened and followed accordingly. In the current manuscript, we review the causes of NF1-related hydrocephalus, as well as treatment options.
据估计，I型神经纤维瘤病（NF1）患者中脑积水的患病率在1%至13%之间。大多数脑积水病因是梗阻性的——导水管蛛网膜、视交叉-下丘脑肿瘤以及与NF变化相关的丘脑占位效应。其他与NF1相关的病症可能会模仿脑积水的临床表现，在评估头痛儿童时应予以排除。这些病症包括脑肿瘤和烟雾病综合征。NF1相关脑积水的治疗应因人而异，包括肿瘤切除或减瘤、分流术以及诸如造瘘术和第三脑室造瘘术等内镜手术。尽管有这些个性化治疗方法，但许多主要治疗方法（包括分流术和内镜手术）仍会失败，因此应对患者进行相应的筛查和随访。在本手稿中，我们回顾了NF1相关脑积水的病因以及治疗选择。
