Division of Pediatric Neurosurgery, Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Faculty of Medicine, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Childs Nerv Syst. 2024 Jul;40(7):2209-2214. doi: 10.1007/s00381-024-06350-7. Epub 2024 Mar 7.
NF2-related schwannomatosis (NF2) is a rare autosomal-dominant genetic disorder characterized by bilateral vestibular schwannomas and multiple meningiomas. This case report presents the extremely rare occurrence of an anaplastic meningioma in a 12-year-old male with previously undiagnosed NF2. The patient presented with a history of abdominal pain and episodic emesis, gait unsteadiness, right upper and lower extremity weakness, and facial weakness. He had sensorineural hearing loss and wore bilateral hearing aids. MR imaging revealed a sizable left frontoparietal, dural-based meningioma with heterogeneous enhancement with mass effect on the brain and midline shift. Multiple additional CNS lesions were noted including a homogenous lesion at the level of T5 indicative of compression of the spinal cord. The patient underwent a frontotemporoparietal craniotomy for the removal of his large dural-based meningioma, utilizing neuronavigation and transdural ultrasonography for precise en bloc resection of the mass. Histopathology revealed an anaplastic meningioma, WHO grade 3, characterized by brisk mitotic activity, small-cell changes, high Ki-67 proliferation rate, and significant loss of P16. We report an anaplastic meningioma associated with an underlying diagnosis of NF2 for which we describe clinical and histopathological features.
NF2 相关的神经鞘瘤病(NF2)是一种罕见的常染色体显性遗传疾病,其特征为双侧前庭神经鞘瘤和多发性脑膜瘤。本病例报告介绍了一例极其罕见的 12 岁男性患有未确诊的 NF2 合并间变性脑膜瘤。该患者表现为腹痛和间歇性呕吐、步态不稳、右上肢和下肢无力以及面部无力。他有感觉神经性听力损失并佩戴双侧助听器。磁共振成像显示左侧额顶枕部、硬脑膜为基础的脑膜瘤,大小较大,不均匀增强,伴有脑实质受压和中线移位。还注意到多个其他 CNS 病变,包括 T5 水平的均匀病变,提示脊髓受压。患者接受了额颞顶枕部开颅手术,以切除他的大型硬脑膜为基础的脑膜瘤,利用神经导航和硬脑膜超声来精确整块切除肿块。组织病理学显示为间变性脑膜瘤,WHO 分级 3 级,特征为活跃的有丝分裂活动、小细胞改变、高 Ki-67 增殖率和明显的 P16 缺失。我们报告了一例与 NF2 相关的间变性脑膜瘤,描述了其临床和组织病理学特征。