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2型神经纤维瘤病的中枢神经系统表现:一例报告。

Central nervous system manifestations of neurofibromatosis type 2: A case report.

作者信息

Izi Zineb, Imrani Kaoutar, Amsiguine Najwa, Oubaddi Tlaite, Billah Nabil Moatassim, Nassar Ittimade

机构信息

Department of Radiology, Ibn Sina University Hospital, Mohamed V University, Ratbat, Rabat, Morocco.

出版信息

Radiol Case Rep. 2023 Jun 9;18(8):2831-2835. doi: 10.1016/j.radcr.2023.05.011. eCollection 2023 Aug.

Abstract

Neurofibromatosis type 2 (phacomatosis) is a rare inherited autosomal dominant condition defined by the development of numerous central neuronal tumors. In addition to classic intracranial schwannomas, intracranial and spinal meningiomas, and intramedullary ependymomas, it can be associated with a few cutaneous abnormalities. In this report, we discuss the case of a 21-year-old female who was examined for persistent headache with cutaneous masses and bilateral hearing loss. Magnetic resonance imaging of the cranium and the whole spine detected multiple meningiomas, intracranial, and intramedullary tumors.

摘要

2型神经纤维瘤病(斑痣性错构瘤病)是一种罕见的常染色体显性遗传病,其特征是出现大量中枢神经肿瘤。除了典型的颅内神经鞘瘤、颅内和脊髓脑膜瘤以及髓内室管膜瘤外,它还可能伴有一些皮肤异常。在本报告中,我们讨论了一名21岁女性的病例,该女性因持续性头痛、皮肤肿块和双侧听力丧失接受检查。头颅和全脊柱的磁共振成像检测到多个脑膜瘤、颅内肿瘤和髓内肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09b7/10300456/a8a66f007b4d/gr1.jpg

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