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Zhao CM, Zhang WJ, Huang AB, et al. Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review. Int J Clin Exp Med. 2015;8(10):17289-94
Zhao, C. M., Zhang, W. J., Huang, A. B., Chen, Q., He, Y. L., Zhang, W., & Yang, H. L. (2015). Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review. International journal of clinical and experimental medicine, 8(10), 17289-94.
Zhao, Chun-Ming, et al. "Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review." International journal of clinical and experimental medicine vol. 8,10 (2015): 17289-94.
Zhao CM, Zhang WJ, Huang AB, Chen Q, He YL, Zhang W, Yang HL. Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review. Int J Clin Exp Med. 2015 Oct 15;8(10):17289-94. eCollection 2015. PMID: 26770321; PMCID: PMC4694221.
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Int J Clin Exp Med. 2015 Oct 15;8(10):17289-94. eCollection 2015.

Coexistence of multiple rare spinal abnormalities in type 1 neurofibromatosis: a case report and literature review.

International journal of clinical and experimental medicine

Chun-Ming Zhao, Wen-Jie Zhang, Ai-Bing Huang, Qian Chen, Yuan-Long He, Wei Zhang, Hui-Lin Yang

Affiliations

  1. 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.
  2. Department of Orthopedic Surgery, Taizhou People's Hospital Taizhou 225300, Jiangsu, China.
  3. Department of Orthopaedic Surgery, Zhongshan Hospital, Fudan University 180 Fenglin Road, Shanghai 200032, China.
  4. Department of Orthopedic Surgery, The First Affiliated Hospital of Soochow University No. 188 Shizi St, Suzhou 215006, Jiangsu, China.

PMID: 26770321 PMCID: PMC4694221

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.

Keywords: Neurofibromatosis; dural ectasia; spondylolisthesis

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