Collagen VI-related myopathy with scoliosis alone: A case report and literature review

Figure 1 Preoperative imaging examination. A: X-ray of the scoliosis - AP view; B: X-ray of the scoliosis - Perfil view; C: Computed tomography three-dimensional reconstruction of the patient; D: Magnetic resonance imaging of the patient’s entire spine.

Figure 2 Multifidus biopsy results of hematoxylin and eosin staining. A few muscles were slightly reduced in size, round in shape, bundles scattered, widened fiber gap and shrink nuclei, with occasional muscle fissure and connective tissue hyperplasia (orange arrows) (hematoxylin & eosin staining, × 40).

Figure 3 Multifidus biopsy results of dystrophin. A: Positive dystrophin 1 staining of sarcolemma (immunohistochemistry [IHC]: dystrophin-1 staining, × 40); B: Partial sarcolemma dystrophin 2 staining was uneven (IHC: dystrophin-2 staining, × 40); C: Partial muscle sarcolemma dystrophin 3 stained unevenly (IHC: dystrophin-3, × 40).

Figure 4 Multifidus biopsy results of cluster of differentiation 4. A few cluster of differentiation 4 (CD4)-positive staining were seen in the wall and stroma of focal small blood vessels (orange arrows) (CD4 staining, × 40).

Figure 5 Electron microscopy results. A: Some sarcolemma is corrugated, and extracellular matrix arrangement is slightly disordered (orange arrows) (× 6000); B: The inner myofibril arrangement is orderly, but band A is unclear (orange arrows) (× 15000).

Figure 6 Gene mutations in COL6A1, COL6A2. A: Sequencing of collagen type VI alpha 1 chain (COL6A1) gene revealed splicing mutations; B: Sequencing of COL6A2 gene revealed missense mutations; C: Sequencing of COL6A2 gene revealed splicing mutations.

Figure 7 Collagen VI immunohistochemistry. A: This patient muscle membrane stained shallow, broaden and discontinuous (immunohistochemistry [IHC]: collagen type VI alpha (COL6A staining, × 40); B: Another myopathy patient (non-scoliosis) matched by age and sex, staining continuous and dense (IHC: COL6A staining, × 40).

Figure 8 Imaging of halo-pelvic distraction. A: Postoperative X-ray of the spine (AP view); B: Postoperative X-ray of the spine (Perfil view).

Figure 9 Postoperative imaging examination. A: Postoperative X-ray of the spine (AP view); B: Postoperative X-ray of the spine (Perfil view).