LAUSR

BACKGROUND Musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a recently delineated connective tissue disorder characterized by multisystem congenital malformations and progressive connective tissue fragility-related manifestations. With only two cases of mcEDS-CHST14 containing precise information on surgical spinal correction being reported to date, there remains no consensus on treatment standards. This study describes the detailed clinical and radiological outcomes of the third known patient with mcEDS-CHST14 who successfully underwent surgery for severe kyphoscoliosis. CASE DESCRIPTION The patient was a 19-year-old girl with mcEDS-CHST14 who suffered from low back pain and decreased daily activities caused by progressive kyphoscoliosis. She underwent posterior spinal fusion with an all-pedicle screw construct from T4 to L4 for a preoperative main curve Cobb angle of 69 degrees and kyphotic angle of 27 degrees. Postoperative Cobb angle of the main curve and kyphotic angle were 26 and 6 degrees, respectively. Although sufficient correction was achieved without disseminated intravascular coagulation or other serious sequelae, a large amount of blood (2600 g) was lost due to tissue fragility. Her low back pain was decreased at one year after surgery. CONCLUSIONS Based on the present and two earlier reported cases, posterior spinal fusion may be a reasonable surgical option for severe progressive spinal deformities in patients with mcEDS-CHST14. However, careful attention is needed for possible massive blood loss from tissue fragility.