This technique carries low neurological and vascular risks because the screws are placed in the pedicles of the convex side of the curve, away from the spinal cord, cauda equina and the aorta. A low implant density (pedicle screw density 1.2, when a density of 2 represents placement of pedicle screws bilaterally at every instrumented segment) achieved satisfactory correction of the scoliosis, an improved thoracic kyphosis and normal global sagittal balance. Both patient satisfaction and functional outcomes were excellent. Cite this article: 2017;99-B:1080-7.
IntroductionRubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, and divided into types 1 and 2. Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2.Case presentationWe present a 14-year-old British Caucasian girl with Rubinstein-Taybi type 2 syndrome who developed a severe double thoracic scoliosis measuring 39° and 68° respectively. Her scoliosis was associated with thoracic hypokyphosis, causing a marked reduction in the anteroposterior diameter of her chest and consequent severe restrictive lung disease. The deformity was noted by her local pediatrician as part of a chest infection assessment when she was aged 13 years, and gradually progressed as the result of spinal growth. Our patient underwent a posterior spinal arthrodesis using a single concave pedicle hook and screw rod construct and locally harvested autologous graft supplemented by allograft bone. This spinal fixation technique was selected because of our patient’s low body weight to avoid prominence of the instrumentation causing skin healing problems and pain. Her scoliosis was corrected to 18° and 30° and we achieved a balanced spine in the coronal and sagittal planes. An underarm spinal jacket was provided for six months after surgery. During her latest follow-up at skeletal maturity, our patient had an excellent cosmetic outcome with no loss of deformity correction or detected pseudoarthrosis and a normal level of activities.ConclusionScoliosis can develop in young children with Rubinstein-Taybi syndrome type 2, with the deformity deteriorating around the pubertal growth spurt. Surgical treatment can correct the deformity, balance the spine and prevent mechanical back pain. It can also stabilize the chest area and avoid respiratory complications developing as the scoliosis progresses, which can result in severe restrictive pulmonary disease. The use of single concave instrumentation is indicated in very slim patients with poor muscle bulk; in our patient, this produced satisfactory deformity correction and a favorable outcome at completion of growth. Peri-operative care in this group of patients can be very challenging because of associated co-morbidities as well as the presence of severe behavioral issues that result in poor patient compliance.
There is still no consensus on the management of severe intracanal RH dislocation in neurofibromatosis type 1 dystrophic kyphoscoliosis. This study notes the early cord function impairment signs, reports a serious complication in a susceptible cord, identifies possible mechanisms of injury, and discusses the management of intracanal RH dislocation presented in the literature. First report is as follows: a 12-year-old female with cord compromise and preoperative neurology that underwent thoracotomy and anterior release. The RH was left in situ following a rib excision. During the posterior stage of the procedure she presented with complete loss of all IOM traces prior to any correction manoeuvres. The neurology recovered 72 h postop and the final correction and instrumented fusion were uneventfully completed 15 days postop. Second report is as follows: a 10-year-old male, whose only neurology was a provoked shock-like sensation to the lower limbs following direct pressure on the rib cage. He underwent an uneventful posterior RH excision and instrumented correction and posterior spinal fusion. In conclusion, any possible cord dysfunction sign should be sought during examination. Decompression of the spinal cord by resecting the impinging bony part, even in the absence of neurological symptoms, is advised before any attempt to release or correct the deformity.
IntroductionTreacher Collins syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities. Scoliosis has not been previously reported as one of the extracranial manifestations of this syndromic condition.Case presentationWe present a 15-year-old British Caucasian girl with Treacher Collins syndrome who developed a severe double thoracic scoliosis measuring 102° and 63° respectively. The deformity was noted at age 14 years by the local general practitioner and gradually progressed until she was referred to our service and subsequently was scheduled for surgical correction. There were no congenital vertebral anomalies. As part of the condition, she had bilateral conductive hearing impairment. She also had reduced respiratory reserves and a restrictive lung disease. Both curves were rigid on supine maximum traction radiographs. She underwent a single-stage anterior and posterior spinal arthrodesis with pedicle hook/sublaminar wire/screw and rod instrumentation and autologous rib graft, supplemented by allograft bone and made a good postoperative recovery. Her scoliosis was corrected to 25° and 24° and a balanced spine in the coronal and sagittal planes was achieved. At latest follow-up beyond skeletal maturity (3 years post-surgery) she had an excellent cosmetic outcome with no loss of deformity correction, no detected pseudarthrosis and a normal level of activities.ConclusionsScoliosis can occur in patients with Treacher Collins syndrome with the deformity demonstrating significant deterioration around the adolescent growth spurt. A high index of awareness will allow for an early diagnosis and scoliosis correction at a stage when this can be safer and performed through a single-stage posterior procedure. If the deformity is detected at a later age and stage of growth as occurred in our patient, more complex surgery is required and this increases the risk for major morbidity and potential mortality. Surgical treatment can correct the deformity, balance the spine and restore cosmesis, as well as prevent mechanical back pain and respiratory complications if the scoliosis progressed to cause severe thoracic distortion. A thorough preoperative assessment can diagnose associated comorbidities and reduce the risk for postoperative complications.
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