Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Orthop. Nov 18, 2023; 14(11): 827-835
Published online Nov 18, 2023. doi: 10.5312/wjo.v14.i11.827
Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report
Yang Jiao, Jun-Duo Zhao, Xu-An Huang, Hao-Yu Cai, Jian-Xiong Shen
Yang Jiao, Jun-Duo Zhao, Xu-An Huang, Hao-Yu Cai, Jian-Xiong Shen, Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China
Author contributions: Cai HY collected data from medical records; Zhao JD reviewed the radiographs; Jiao Y wrote the manuscript; Huang XA provided intellectual support; Shen JX finalised the manuscript and was responsible for this; All authors reviewed the manuscript; Final approval of the manuscript has been obtained from all authors.
Supported by National Natural Science Foundation of China, No. 81974354and No. 82230083.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jian-Xiong Shen, MD, Director, Professor, Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing 100730, China. sjxpumch@163.com
Received: August 14, 2023
Peer-review started: August 14, 2023
First decision: September 28, 2023
Revised: October 9, 2023
Accepted: October 23, 2023
Article in press: October 23, 2023
Published online: November 18, 2023
Processing time: 93 Days and 16.7 Hours
Abstract
BACKGROUND

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant hereditary disease caused by COL2A1 mutations. SEDC primarily involves the skeletal system, with typical clinical manifestations, including short stature, hip dysplasia, and spinal deformity. Due to the low incidence of SEDC, there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities.

CASE SUMMARY

We report a case of a 16-year-old male patient with SEDC. He presented with typical short stature, atlantoaxial dysplasia, scoliosis, and hip dysplasia. Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy. The scoliosis was a right thoracic curve with a Cobb angle of 65°. He underwent atlantoaxial reduction, decompression, and internal fixation from C1–C2 to relieve cervical myelopathy. Three months after cervical surgery, posterior correction surgery for scoliosis was performed from T3 to L4. Scoliosis was corrected from 66° to 8° and remained stable at 2-year follow-up.

CONCLUSION

This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis. The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities.

Keywords: Spondyloepiphyseal dysplasia congenita; Surgical treatment; Atlantoaxial dysplasia; Scoliosis; Hip dysplasia; Case report

Core Tip: This study describes the case of a 16-year-old male patient diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) and treated with surgeries for multiple spinal deformities. SEDC is a rare genetic disorder, which mainly affects skeletal development, with an incidence of approximately 3/1000000. Due to the low incidence, there are very few reports on surgical treatment of skeletal deformities in patients with SEDC. We believe that our study makes a significant contribution to the literature because this is the first case report of a patient with SEDC who successfully underwent surgeries for atlantoaxial dysplasia and scoliosis.