title: Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review.
abstract: Orthopaedic involvement is the most common clinical presentation of Neurofibromatosis type 1 (NF-1) patients with the spinal abnormalities more frequently affected. In the spinal deformities of NF-1 patients, despite the scoliosis is the most frequent finding, several distinctive radiographic features, such as dural ectasia, defective pedicles, and spondylolisthesis, are relatively less common. Here, we reported a 16-year-old boy diagnosed with NF-1 who presented with dural ectasia, defective pedicles, and spondylolisthesis concomitantly, described the surgical treatment and provided a literature review. The boy complained of low back and leg pain for two months. On clinical examination, the patient showed multiple café au lait spots on his back and no neurological deficit. He had a family history of neurofibromatosis as his father suffering from NF-1. Imaging results demonstrated mild scoliosis, posterior scalloping of the lumber spine, L5 spondylolisthesis on plain radiographs, and marked dural ectasia of L3-L5 on MRI. Furthermore, the CT scan showed presence of thin pedicles at L3, bilateral symmetrical pedicle clefts at L4, and pars interarticularis fractures at L5. The patient received a long level posterior fusion from L1 to S1 with pedicle screws. Iliac crest autogenous graft mixed with artificial bone were used to achieve solid arthrodesis. At nine-month follow-up, the patient was asymptomatic and able to live a normal life. Our observation demonstrated that familiarity with those distinctive features in NF-1 patients could be contributed to making an early diagnosis and optimizing treatment.
authors.affiliation: Department of Orthopedic Surgery, The First Affiliated Hospital of Soochow UniversityNo. 188 Shizi St, Suzhou 215006, Jiangsu, China; Department of Orthopedic Surgery, Taizhou People's HospitalTaizhou 225300, Jiangsu, China.
authors.forename: Chun-Ming
authors.initials: CM
authors.lastname: Zhao
authors.affiliation: Department of Orthopedic Surgery, Taizhou People's Hospital Taizhou 225300, Jiangsu, China.
authors.forename: Wen-Jie
authors.initials: WJ
authors.lastname: Zhang
authors.affiliation: Department of Orthopedic Surgery, Taizhou People's Hospital Taizhou 225300, Jiangsu, China.
authors.forename: Ai-Bing
authors.initials: AB
authors.lastname: Huang
authors.affiliation: Department of Orthopaedic Surgery, Zhongshan Hospital, Fudan University 180 Fenglin Road, Shanghai 200032, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Department of Orthopedic Surgery, Taizhou People's Hospital Taizhou 225300, Jiangsu, China.
authors.forename: Yuan-Long
authors.initials: YL
authors.lastname: He
authors.affiliation: Department of Orthopedic Surgery, Taizhou People's Hospital Taizhou 225300, Jiangsu, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Orthopedic Surgery, The First Affiliated Hospital of Soochow University No. 188 Shizi St, Suzhou 215006, Jiangsu, China.
authors.forename: Hui-Lin
authors.initials: HL
authors.lastname: Yang
keywords: Neurofibromatosis; dural ectasia; spondylolisthesis