Kuchna I, Zabek M, Dambska M, Matyja E, Wierzba-Bobrowicz T
Laboratory of Developmental Neuropathology, Polish Academy of Sciences, Warszawa.
Folia Neuropathol. 1995;33(3):141-4.
A case of a 24-year-old woman with peripheral paresis of the facial nerve, balance disturbance, hearing loss and epileptic seizures for many years is presented. At time of admission to hospital cerebral magnetic resonance imaging (MRI) showed several large tumors situated supra- and infratentorially. Histological examination of the operated tumors revealed bilateral acoustic schwannomas in the cerebellopontine angles and mixed meningioma in the others. The patient was diagnosed as neurofibromatosis type 2 (NF2) according to clinical criteria for neurofibromatoses. Several months after the last operation, she exhibited weakness of all extremities. On spinal MRI an intramedullary tumor in the cervical region and additional focal lesions along central canal were found. Surgical therapy was not performed because of clinical improvement after dexamethasone treatment and location of lesion in cervical medulla. Our case confirms frequently occurring lack of neurocutaneous changes and late appearance of significant neurological symptoms in NF2.
本文报告了一例24岁女性患者，该患者多年来一直存在面神经周围性麻痹、平衡障碍、听力丧失及癫痫发作症状。入院时，脑部磁共振成像（MRI）显示幕上和幕下有多个大肿瘤。对手术切除的肿瘤进行组织学检查发现，双侧桥小脑角存在听神经鞘瘤，其他部位为混合性脑膜瘤。根据神经纤维瘤病的临床标准，该患者被诊断为2型神经纤维瘤病（NF2）。最后一次手术后数月，她出现了四肢无力的症状。脊髓MRI检查发现颈椎区域有髓内肿瘤以及沿中央管的其他局灶性病变。由于地塞米松治疗后临床症状有所改善且病变位于颈髓，因此未进行手术治疗。我们的病例证实了NF2患者经常出现神经皮肤改变缺失以及显著神经症状出现较晚的情况。
