Hong-Yi Lin1,2, Chun-Chao Lin2,3, Su-Ju Tsai4,5. 1. Department of Physical Medicine and Rehabilitation, Chung Shan Medical University Hospital, Taichung City, Taiwan. 2. Department of Physical Medicine and Rehabilitation, School of Medicine, Chung Shan Medical University, Taichung City, Taiwan. 3. Department of Physical Medicine and Rehabilitation, Chung Shing Branch, Chung Shan Medical University Hospital, Taichung City, Taiwan. 4. Department of Physical Medicine and Rehabilitation, Chung Shan Medical University Hospital, Taichung City, Taiwan. sujutsai@gmail.com. 5. Department of Physical Medicine and Rehabilitation, School of Medicine, Chung Shan Medical University, Taichung City, Taiwan. sujutsai@gmail.com.
Abstract
INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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.
INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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.
Authors: Xiong Zhao; Jun Li; Lei Shi; Liu Yang; Zi-Xiang Wu; Da-Wei Zhang; Wei Lei; Qiang Jie Journal: Medicine (Baltimore) Date: 2016-04 Impact factor: 1.889