Intradural Extramedullary Lesions in Cervical Spine in Neurofibromatosis

R. Moshref
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Abstract

Introduction: Neurofibromatosis (NF) is isolated into three diseases: NF type 1, type 2, and schwannoma. NF type 2 could be a disorder that's found roughly in 1/25,000–33,000 births with a mutation in gene 22q11.2, and it is passed through eras in an autosomal dominant fashion. Diagnosis is made with both clinical and radiological features. A few clinical features have been characterized in conclusion counting Manchester criteria. There is a scarce number of NF type 2 patients diagnosed with cervical lesions which are 25 in number. We report a case of an intradural extramedullary cervical lesion in a patient later diagnosed with NF type 2. Case Report: A 30-year-old male presenting with gradual onset and progressive course of spastic quadriparesis of six months’ duration was admitted through the emergency unit. MRI spine showed intradural extramedullary masses in the right side of C4 and left side of C6. The patient underwent cervical intradural excision of two masses under general anesthesia with neuromonitoring. The tumor was sent for histopathology and reported as NF type 2. Conclusion: NF is a common entity, but the diagnosis of cervical mass is judicious to avoid any complication in neurological function. It further needs a multidisciplinary approach and screening modalities.
神经纤维瘤病颈椎硬膜内髓外病变
简介:神经纤维瘤病(NF)分为三种疾病:NF 1型、2型和神经鞘瘤。NF 2型可能是一种大约在1/25,000-33,000名新生儿中发现的疾病,其基因22q11.2发生突变,并以常染色体显性方式遗传。诊断需要结合临床和放射学特征。一些临床特征已被定性为结论计数曼彻斯特标准。诊断为宫颈病变的2型NF患者数量很少,只有25例。我们报告一例硬膜内髓外宫颈病变的病人后来被诊断为NF 2型。病例报告:一名30岁男性,表现为痉挛性四肢瘫的逐渐发作和进展过程,持续6个月,通过急诊科入院。脊柱MRI显示C4右侧和C6左侧硬膜内髓外肿块。患者在全身麻醉下行宫颈硬膜内两个肿块切除术并辅以神经监测。肿瘤行组织病理学检查,报告为NF 2型。结论:NF是一种常见的实体,但对宫颈肿块的诊断是明智的,以避免任何神经功能并发症。它还需要多学科方法和筛查方式。
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