Posterior thoracolumbar fusion in a patient with Kleefstra Syndrome related scoliosis: The first case reported

Abstract

Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS.We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97 ) and right convex thoracolumbar curve (T9-L3, 88 ). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33 while the thoracolumbar one to 26 and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program.Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones.

Hybrid versus total sublaminar wires in patients with spinal muscular atrophy undergoing scoliosis surgery

“…Pulmonary function was maintained after surgery during long-term postoperative follow-up. Therefore, early detection of severe scoliotic curves in SMA patients or even in patients with rare syndromic diseases such as Kleefstra syndrome [32] is important because surgery for spine deformities could help improve their posture and improve the quality of life.…”