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Spinal deformity in patients with DiGeorge syndrome
Athanasios I Tsirikos1, Lukman Ahmed Kashif Khan, Michael J McMaster
1Scottish National Spine Deformity Center, Royal Hospital for Sick Children, Edinburgh, UK. atsirikos@hotmail.com
Study Design:
Retrospective review of a case series.
Objective:
To present the clinical characteristics and treatment of spinal deformity in DiGeorge syndrome.
Summary Of Background Data:
There are no data on the development of spinal deformity in this condition. A high rate of wound infection could be expected after spinal surgery due to congenital thymic hypoplasia.
Methods:
The medical records and spinal radiographs of 4 consecutive patients were reviewed. All patients were followed for a minimum of 2.5 years after spinal surgery.
Results:
The mean age at diagnosis of spinal deformity was 9.9 years. The type of deformity was not uniform but the curves progressed in all patients requiring a spinal arthrodesis at a mean age of 16.1 years. Two patients developed a thoracolumbar scoliosis and underwent an anterior spinal arthrodesis with instrumentation, which produced a good outcome. The remaining 2 patients developed a double thoracic and lumbar scoliosis with increased thoracic kyphosis. Brace treatment was unsuccessful to control the deformity in one of these patients. Both patients underwent a posterior spinal arthrodesis with segmental instrumentation, which achieved satisfactory correction of the scoliosis with no loss of correction or detected pseudarthrosis at follow-up. However, both patients developed junctional kyphosis above the proximal end of the instrumentation. This was asymptomatic and nonprogressive; therefore, cephalad extension of the fusion was not required. Irradiated blood products were administered in all patients to prevent graft-versus-host disease. The postoperative course was uncomplicated and none of the patients developed wound healing problems or infections.
Conclusions:
The development of spinal deformity in patients with DiGeorge syndrome may be associated to the presence of marked ligamentous laxity and congenital cardiac disease. There is significant variability on the pattern of spinal deformity, which in our series was progressive in all patients and required surgical correction with no perioperative complications.
