Department of Physical Medicine and Rehabilitation, Chung Shan Medical University Hospital, Taichung City, Taiwan.
Department of Physical Medicine and Rehabilitation, School of Medicine, Chung Shan Medical University, Taichung City, Taiwan.
Spinal Cord Ser Cases. 2022 Sep 1;8(1):78. doi: 10.1038/s41394-022-00544-4.
Neurofibromatosis type 1 (NF-1) is an autosomal-dominant disorder affecting 1 in 3000 individuals worldwide. NF-1 is characterized by café-au-lait macules and peripheral nerve sheath tumors. Patients with NF-1 frequently exhibit bony dysplasia, including spinal deformities such as scoliosis or kyphosis, pseudarthrosis of the tibia, and soft tissue tumors. Some patients with NF-1 exhibit spinal changes, including acutely angled cervical kyphosis. Prior studies have also described arteriovenous (AV) fistulas in individuals with NF-1, as well as a predisposition to cervical fistulas which display symptoms secondary to mass effect, rather than hemorrhage. Sometimes, fistulas are incidentally detected during evaluations for cervical kyphotic deformities.
The case herein describes a patient with NF-1 who exhibited a severe cervical spinal kyphotic deformity and a vertebral AV fistula. The patient initially presented with neck pain that radiated to all four limbs and resulted in limb weakness.
Spinal kyphosis is common in patients with NF-1, and if dystrophic changes are noted on plain radiographs, MRI should be considered for the further survey of potential spinal vascular lesions.
神经纤维瘤病 1 型（NF-1）是一种常染色体显性遗传病，全球每 3000 人中就有 1 人受到影响。NF-1 的特征是咖啡牛奶斑和周围神经鞘瘤。NF-1 患者常表现为骨发育不良，包括脊柱畸形，如脊柱侧凸或后凸、胫骨假关节和软组织肿瘤。一些 NF-1 患者表现出脊柱变化，包括急性成角性颈椎后凸。先前的研究还描述了 NF-1 个体中的动静脉（AV）瘘以及颈椎瘘的易感性，这些瘘显示出因肿块效应而不是出血引起的症状。有时，在评估颈椎后凸畸形时偶然发现瘘。
本文描述了一例 NF-1 患者，其表现为严重的颈椎后凸畸形和椎体 AV 瘘。该患者最初表现为颈部疼痛，放射至四肢，导致四肢无力。
脊柱后凸在 NF-1 患者中很常见，如果在平片上发现营养不良性改变，应考虑 MRI 进一步检查潜在的脊柱血管病变。
