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一例具有典型影像学和皮肤表现的2型神经纤维瘤病(NF2)。

A case of neurofibromatosis type 2 (NF2) with classic imaging and skin findings.

作者信息

Bhattacharjee Saikat, Sinha Preema, Sarin Arti, Prasad B K

机构信息

Classified Specialist (Radiodiagnosis), Military Hospital Kirkee, Pune 411020, India.

Assistant Professor, Department of Dermatology, Armed Forces Medical College, Pune 411040, India.

出版信息

Med J Armed Forces India. 2018 Oct;74(4):407-409. doi: 10.1016/j.mjafi.2017.07.007. Epub 2017 Oct 5.

Abstract

Neurofibromatosis is a neurocutaneous, tumor predisposing, inheritable disorder characterized by tumors of the brain and spine and the presence of skin lesions. The most important tumors associated with neurofibromatosis are vestibular nerve schwannomas, with others being meningiomas and ependymomas. The cord is also affected by tumors, ependymoma being the commonest, besides meningiomas and schwannomas. We present a case with café au lait macules, neurofibromas in the skin, bilateral VIII cranial nerve schwannomas, multiple meningiomas in the brain and spine, ependymomas in the brain and spine, and schwannomas in the cauda equina nerve roots.

摘要

神经纤维瘤病是一种神经皮肤性、肿瘤易感性、遗传性疾病,其特征为脑和脊柱肿瘤以及皮肤损害的存在。与神经纤维瘤病相关的最重要肿瘤是前庭神经鞘瘤,其他还有脑膜瘤和室管膜瘤。脊髓也会受到肿瘤影响,除脑膜瘤和神经鞘瘤外,室管膜瘤最为常见。我们报告一例患有咖啡斑、皮肤神经纤维瘤、双侧第八颅神经鞘瘤、脑和脊柱多发脑膜瘤、脑和脊柱室管膜瘤以及马尾神经根神经鞘瘤的病例。

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