Pediatric Neurology Institute, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Childs Nerv Syst. 2023 Apr;39(4):849-856. doi: 10.1007/s00381-023-05888-2. Epub 2023 Feb 27.
Noonan syndrome (NS) is a rare neurodevelopmental syndrome characterized by dysmorphic features, congenital heart defects, neurodevelopmental delay, and bleeding diathesis. Though rare, several neurosurgical manifestations have been associated with NS, such as Chiari malformation (CM-I), syringomyelia, brain tumors, moyamoya, and craniosynostosis. We describe our experience in treating children with NS and various neurosurgical conditions, and review the current literature on neurosurgical aspects of NS.
Data were retrospectively collected from the medical records of children with NS who were operated at a tertiary pediatric neurosurgery department, between 2014 and 2021. Inclusion criteria were clinical or genetic diagnosis of NS, age < 18 years at treatment, and need for a neurosurgical intervention of any kind.
Five cases fulfilled the inclusion criteria. Two had tumors, one underwent surgical resection. Three had CM-I, syringomyelia, and hydrocephalus, of whom one also had craniosynostosis. Comorbidities included pulmonary stenosis in two patients and hypertrophic cardiomyopathy in one. Three patients had bleeding diathesis, two of them with abnormal coagulation tests. Four patients were treated preoperatively with tranexamic acid, and two with Von Willebrand factor or platelets (1 each). One patient with a clinical bleeding predisposition developed hematomyelia following a syringe-subarachnoid shunt revision.
NS is associated with a spectrum of central nervous system abnormalities, some of which with known etiology, while in others a pathophysiological mechanism has been suggested in the literature. When operating on a child with NS, a meticulous anesthetic, hematologic, and cardiac evaluation should be conducted. Neurosurgical interventions should then be planned accordingly.
努南综合征（NS）是一种罕见的神经发育综合征，其特征为畸形特征、先天性心脏缺陷、神经发育迟缓以及出血素质。尽管罕见，但已有数种神经外科表现与 NS 相关，如 Chiari 畸形（CM-I）、脊髓空洞症、脑肿瘤、烟雾病和颅缝早闭。我们描述了我们在治疗患有 NS 和各种神经外科疾病的儿童方面的经验，并回顾了 NS 神经外科方面的当前文献。
我们从 2014 年至 2021 年在一家三级儿科神经外科部门接受治疗的 NS 儿童的病历中回顾性收集数据。纳入标准为临床或基因诊断为 NS、治疗时年龄<18 岁以及需要进行任何类型的神经外科干预。
有 5 例符合纳入标准。其中 2 例患有肿瘤，1 例行手术切除。3 例患有 CM-I、脊髓空洞症和脑积水，其中 1 例还患有颅缝早闭。合并症包括 2 例肺动脉瓣狭窄和 1 例肥厚型心肌病。3 例有出血素质，其中 2 例凝血试验异常。4 例患者在术前用氨甲环酸治疗，2 例患者用血管性血友病因子或血小板（各 1 例）治疗。1 例有临床出血倾向的患者在接受注射器-蛛网膜下腔分流管修复后发生了血肿性脊髓炎。
NS 与一系列中枢神经系统异常相关，其中一些具有已知病因，而在其他情况下，文献中提出了一种病理生理机制。在对患有 NS 的儿童进行手术时，应进行细致的麻醉、血液学和心脏评估。然后应相应地计划神经外科干预。
