Sarica Feyzi Birol, Cekinmez Melih, Tufan Kadir, Erdoğan Bülent, Sen Orhan, Altinörs Mehmet Nur
Baskent University Faculty of Medicine, Neurosurgery Department, Adana, Turkey.
Turk Neurosurg. 2008 Jan;18(1):99-106.
Neurofibromatosis type-1 (NF1) is a type of phakomatosis inherited in an autosomal dominant fashion. Also called 'von Recklinghausen disease' or 'peripheral neurofibromatosis', it comprises 90% of all neurofibromatosis (NF) cases. It is characterized by multiple peripheral nerve sheath tumors of benign character called neurofibromas. Surgical intervention is indicated when myelopathy and motor losses develop in the case of paraspinal neurofibromas, which are frequently localized to the cervical and lumbar regions. The level of surgical intervention required should be carefully considered and should take into account neurophysiological tests of paraspinal neurofibroma cases that allow estimation of the risk that the neurofibromas will invade the complete spinal axis. The best results are obtained with patients showing minimal neurological deficits during the pre-operative period. Little improvement may be expected from the patients who develop complete transection syndrome during the postoperative period. In the present paper, we discuss an NF1 case in which paraspinal neurofibromas were observed along the complete spinal axis of a 32-year-old male patient who arrived at the clinic reporting increasingly intense pins and needles and weakness. We discuss the patient's diagnosis, treatment, and prognosis, and relate this case to the literature.
1型神经纤维瘤病（NF1）是一种以常染色体显性方式遗传的错构瘤病。它也被称为“冯雷克林霍增氏病”或“外周神经纤维瘤病”，占所有神经纤维瘤病（NF）病例的90%。其特征是出现多个称为神经纤维瘤的良性外周神经鞘瘤。当椎旁神经纤维瘤出现脊髓病和运动功能丧失时，需要进行手术干预，这些神经纤维瘤常位于颈部和腰部区域。所需的手术干预水平应仔细考虑，并应考虑对椎旁神经纤维瘤病例进行神经生理学测试，以评估神经纤维瘤侵犯整个脊髓轴的风险。术前神经功能缺损最小的患者能获得最佳治疗效果。术后出现完全横断综合征的患者预期改善甚微。在本文中，我们讨论了一例NF1病例，该病例中，一名32岁男性患者因感觉异常和虚弱症状加重前来就诊，其整个脊髓轴均发现有椎旁神经纤维瘤。我们讨论了该患者的诊断、治疗和预后，并将此病例与文献进行了关联。
