Abstract：
Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with an autosomal dominant pattern of inheritance. This congenital disease is characterized by a wide spectrum of clinical manifestations and degree of severity. This case report describes a female patient in her early 20s who presented with a complaint of lumbosciatica-like pain evolving for several months. The condition initially escaped the attention of clinicians until a lumbar computed tomography scan and spinal magnetic resonance imaging were performed. The patient was then transferred to the general surgery department, where a clinical diagnosis of NF1 was established. The clinical manifestations were specific for this disease, including café-au-lait macules, plexiform neurofibroma, and a history of neurofibromatosis in her mother. The patient underwent surgical resection of the neurofibroma, which resulted in a favorable outcome. However, 2 years later, a new mass attached to the second lumbar spinal nerve was revealed by a follow-up computed tomography scan. Long-term and close follow-up of NF1 is required because of the high risk of malignancy and recurrence in NF1 patients.
摘要：
1型神经纤维瘤病（NF1）是一种神经皮肤疾病，具有常染色体显性遗传模式。这种先天性疾病的特征在于广泛的临床表现和严重程度。此病例报告描述了一名20岁出头的女性患者，她抱怨腰痛样疼痛持续数月。这种情况最初没有引起临床医生的注意，直到进行了腰椎计算机断层扫描和脊柱磁共振成像。病人随后被转到普外科,在那里建立了NF1的临床诊断。这种疾病的临床表现具有特异性，包括café-au-lait黄斑，丛状神经纤维瘤,还有她母亲的神经纤维瘤病病史.患者接受了神经纤维瘤的手术切除,这导致了一个有利的结果。然而,2年后,通过后续的计算机断层扫描扫描发现了一个新的附于第二腰脊神经的肿块.由于NF1患者的恶性肿瘤和复发风险很高，因此需要对NF1进行长期和密切的随访。
