Hamza Lagtarna, Yahya Naji, Wafa Hrouch, Loubna Chouaf, Sara Laadami, Nawal Adali
Neurology Department, Agadir University Hospital, Agadir, MAR.
NICE (Neurosciences Innovation Cognition Ethique) Research Team, REGNE (Rein Endocrinologie Gastroentérologie Neurosciences Ethique) Research Laboratory, Ibn Zohr University, Agadir, MAR.
Cureus. 2025 Jul 16;17(7):e88131. doi: 10.7759/cureus.88131. eCollection 2025 Jul.
Neurofibromatosis type 2 (NF2) is a rare genetic disorder affecting the nervous system, primarily characterized by benign tumor formation, including bilateral vestibular schwannomas, meningiomas, and ependymomas. These tumors are collectively known as MISME (multiple intracranial schwannomas, meningiomas, and ependymomas) syndrome. We report a case of a 35-year-old woman with no notable medical or family history, who presented with progressive hearing loss and right upper limb weakness. Magnetic resonance imaging revealed multiple central nervous system tumors, confirming the diagnosis of NF2. The patient was referred to the neurosurgery department for further management; however, no follow-up information was received, and it was suspected that the patient may have sought care elsewhere. This case underscores the diverse clinical manifestations of NF2 and emphasizes the critical role of neuroimaging in the early diagnosis of the condition. A multidisciplinary approach is essential for optimal care, and future advances in targeted therapy may significantly improve patient outcomes. Clinicians should remain vigilant for the diverse presentations of NF2, as early detection and comprehensive management can positively influence the disease progression and quality of life.
2型神经纤维瘤病(NF2)是一种罕见的影响神经系统的遗传性疾病,主要特征是形成良性肿瘤,包括双侧前庭神经鞘瘤、脑膜瘤和室管膜瘤。这些肿瘤统称为MISME(多发性颅内神经鞘瘤、脑膜瘤和室管膜瘤)综合征。我们报告一例35岁女性病例,该患者无明显的病史或家族史,表现为进行性听力丧失和右上肢无力。磁共振成像显示多个中枢神经系统肿瘤,确诊为NF2。该患者被转诊至神经外科进一步治疗;然而,未收到后续信息,怀疑该患者可能已在其他地方就医。该病例强调了NF2的多种临床表现,并强调了神经影像学在该病早期诊断中的关键作用。多学科方法对于最佳治疗至关重要,靶向治疗的未来进展可能会显著改善患者的预后。临床医生应警惕NF2的多种表现,因为早期检测和综合管理可对疾病进展和生活质量产生积极影响。