Successful Spine-Shortening Osteotomy for Recurrent Tethered Cord Syndrome in a Patient with Ehlers-Danlos Type III and Mosaic Trisomy 20: A Case Report

The authors report a rare case of recurrent tethered cord syndrome in the context of Ehlers Danlos Syndrome and mosaic trisomy chromosome 20 that was successfully treated by shortening vertebral column with a partial corpectomy. The patient was a 20-year-old female diagnosed with Ehlers Danlos type 3 and mosaic trisomy 20.Her lower extremities sensation and strength gradually deteriorated, and a clinical and radiographic diagnosis of tethered cord syndrome was made. She underwent three detethering surgeries, which all were complicated with retethering and arachnoid cyst formation. The massive amount of scar formation found on the third attempt at detethering surgery forced the surgeon to leave the spinal cord tethered and plan for spinal-shortening osteotomy. A T11 vertebral column resection shortened the spine by 20 mm and allowed gradual and significant recovery of lower limb neurological deficits. Authors reported this rare case in order to (a) propose the consideration of the spine-shortening osteotomy as the primary surgery in a tethered cord syndrome patient with a higher possibility of scar formation like Ehlers Danlos Syndrome (b) and to report a rare case of tethered cord syndrome in the context of Ehlers Danlos Syndrome with mosaic trisomy 20 and (c) raise the awareness of the possibility of unreported genetic association of Ehlers Danlos Syndrome with mosaic trisomy 20.