Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2021; 9(19): 5302-5312
Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5302
Collagen VI-related myopathy with scoliosis alone: A case report and literature review
Jun-Yu Li, Shuo-Zi Liu, Dan-Feng Zheng, Ying-Shuang Zhang, Miao Yu
Jun-Yu Li, Miao Yu, Department of Orthopaedics, Peking University Third Hospital, Beijing 100083, China
Shuo-Zi Liu, Department of Hematology, Peking University Third Hospital, Beijing 100083, China
Dan-Feng Zheng, Department of Pathology, Peking University Third Hospital, Beijing 100083, China
Ying-Shuang Zhang, Department of Neurology, Peking University Third Hospital, Beijing 100083, China
Author contributions: Li JY, Liu SZ, Yu M, Zheng DF, and Zhang YS performed the imaging analyses, and interpretation and contributed to manuscript drafting; Zhang YS performed the pathological analyses; All authors issued final approval for the version to be submitted.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Miao Yu, PhD, Doctor, Department of Orthopaedics, Peking University Third Hospital, No. 49 Huayuan North Road, Haidian District, Beijing 100083, China. miltonyu@126.com
Received: February 25, 2021
Peer-review started: February 25, 2021
First decision: April 13, 2021
Revised: April 26, 2021
Accepted: April 29, 2021
Article in press: April 29, 2021
Published online: July 6, 2021
Processing time: 118 Days and 15.9 Hours
Abstract
BACKGROUND

Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy, caused by mutations in collagen type VI alpha 1 chain (COL6A1), COL6A2, and COL6A3 genes. The typical clinical presentations of collagen VI-related myopathy include weakness, hypotonia, laxity of distal joints, contractures of proximal joints, and skeletal deformities.

CASE SUMMARY

A 28-year-old female presented with scoliosis for 28 years without weakness, hypotonia, laxity of distal joints, and contracture of proximal joints. Computed tomography and magnetic resonance imaging revealed hemivertebra, butterfly vertebra, and the missing vertebral space. Patients underwent orthopedic surgery and paravertebral muscle biopsy. The Cobb angle dropped from 103.4° to 52.9°. However, the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions, suggesting congenital muscular dystrophy. Gene analysis indicated that mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry staining for collagen VI displayed shallow and discontinuous. Eventually, the patient was diagnosed as collagen VI-related myopathy.

CONCLUSION

This newly found subtype of collagen VI-related myopathy has no typical manifestations; however, it is characterized by severe scoliosis and congenital vertebral deformity.

Keywords: Paravertebral pathology; Scoliosis; Collagen VI-related myopathy; Genetic testing; Neuromuscular diseases; Case report

Core Tip: Here, we report a patient diagnosed with congenital scoliosis initially with deformity of the vertebral body. However, gene analyses indicated mutations in collagen type VI alpha 1 chain (COL6A1) (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry of collagen VI displayed shallow and discontinuous staining. This newly found subtype of collagen VI-related myopathy has no weakness, hypotonia, laxity of distal joints, and contractures of proximal joints and is characterized by severe scoliosis and congenital vertebral deformity, indicating that the underlying etiology of congenital scoliosis may be a special type of collagen VI-related myopathy.