Moodley Manikum, Ortman Chelsey
Department of Pediatric Neurosciences, University of Texas at Austin, Ascension Dell Children's Medical Center, USA.
Department of Pediatric Neurosciences, University of Texas at Austin, Ascension Dell Children's Medical Center, USA.
Semin Pediatr Neurol. 2024 Dec;52:101171. doi: 10.1016/j.spen.2024.101171. Epub 2024 Nov 9.
Neurofibromatosis type 2-related schwannomatosis (NF2-SWN) is an autosomal dominant inherited disorder with 100 % penetrance associated with pathogenic variants of the NF2 gene on the long arm of chromosome 22. It was previously known as central neurofibromatosis and neurofibromatosis type 2. NF2-SWN has a global incidence of about 1 in 50,000. This disorder is characterized by the formation of multiple types of central nervous system tumors. While bilateral vestibular schwannomas affect more than 95 % of individuals with NF2-SWN, meningiomas, ependymomas, gliomas, other schwannomas, and ophthalmologic abnormalities are also common. Careful dermatologic, ophthalmologic, and neurologic examination can identify signs of NF2-SWN to allow timely initiation of disease specific treatment. Most patients benefit from multimodal treatment, including surgery.
2型神经纤维瘤病相关的神经鞘瘤病（NF2-SWN）是一种常染色体显性遗传性疾病，其发病率为100%，与22号染色体长臂上NF2基因的致病变异有关。它以前被称为中枢神经纤维瘤病和2型神经纤维瘤病。NF2-SWN在全球的发病率约为五万分之一。这种疾病的特征是形成多种类型的中枢神经系统肿瘤。虽然双侧前庭神经鞘瘤影响超过95%的NF2-SWN患者，但脑膜瘤、室管膜瘤、胶质瘤、其他神经鞘瘤和眼科异常也很常见。仔细的皮肤科、眼科和神经科检查可以识别NF2-SWN的体征，以便及时开始针对该疾病的治疗。大多数患者受益于多模式治疗，包括手术。
