We reviewed 31 consecutive patients with Friedreich’s ataxia and scoliosis. There were 24 males and seven females with a mean age at presentation of 15.5 years (8.6 to 30.8) and a mean curve of 51° (13° to 140°). A total of 12 patients had thoracic curvatures, 11 had thoracolumbar and eight had double thoracic/lumbar. Two patients had long thoracolumbar collapsing scoliosis with pelvic obliquity and four had hyperkyphosis. Left-sided thoracic curves in nine patients (45%) and increased thoracic kyphosis differentiated these deformities from adolescent idiopathic scoliosis. There were 17 patients who underwent a posterior instrumented spinal fusion at mean age of 13.35 years, which achieved and maintained good correction of the deformity. Post-operative complications included one death due to cardiorespiratory failure, one revision to address nonunion and four patients with proximal junctional kyphosis who did not need extension of the fusion. There were no neurological complications and no wound infections. The rate of progression of the scoliosis in children kept under simple observation and those treated with bracing was less for lumbar curves during bracing and similar for thoracic curves. The scoliosis progressed in seven of nine children initially treated with a brace who later required surgery. Two patients presented after skeletal maturity with balanced curves not requiring correction. Three patients with severe deformities who would benefit from corrective surgery had significant cardiac co-morbidities.

Introduction:. The cavovarus foot is a complex deformity caused by muscle imbalance, soft-tissue contracture and secondary bony abnormality. It is a combination of hindfoot, midfoot and forefoot deformity and the decision making process for surgical management can be difficult. The process of deciding which combination of procedures is required is often poorly understood. We present an algorithm to assist with this decision making. Methods:. We have analysed a single surgeon's experience of cavovarus foot correction, from a consecutive series of 50 patients over 5 years, to develop an algorithm to guide operative decision making. Cases included cavovarus deformity secondary to cerebral palsy, Friedreich's ataxia, Charcot Marie Tooth disease, post-traumatic contracture, post-cerebrovascular accident, iatrogenic post-surgery and physiological cavus. We have taken a systematic approach to each component of the deformity in order to generate the algorithm. Results:. To assist in rationalising the traditional ‘a-la-carte’ approach, our algorithm describes what we believe are the indications for a variety of surgical interventions, including soft tissue contracture release, osteotomies of the hindfoot, midfoot and forefoot, tendon transfer and soft tissue balancing, and arthrodesis. We detail the decision making process for each surgical option and give the reasons for each decision. We have also reviewed the available literature on this topic, to produce an evidence-based and useable tool for surgical planning. Conclusion:. The surgical decision making process in the management of the cavovarus foot is complex. We believe that this algorithm, based on extensive personal experience and up-to-date published evidence, provides a clear and proven framework on which surgical decision making can be guided and justified

Since the commencement of the Neuromuscular-Unit in the Children’s-Hospital “Agia Sofia”, from December 2002 until December 2008, 306 patients were examined suffering from different neuromuscular diseases (ND). In the present study we examined. the frequency of spine deformities,. the management in correlation with the poor general health of these patients, analyzing the most frequent presenting disease, that is Duchenne’s-muscular-dystrophy,. cases of surgical management of our Unit are presented. From the analysis of our material we found that 152 patients were suffering from Duchenne’s-Becker muscular-dystrophy, 59 patients from spinal-muscular-atrophy I-III, 13 patients from fascioscapulohumeral muscular-dystrophy, 15 patients from hereditary motorsensory-neuropathies, 5 patients from Friedreich’s Ataxia and 62 patients from different types of dystrophinopathies–myopathies. The ages of the patients varied between 8 months and 37 years. From the total, 89% of the patients above 10 years presented with spine deformities. Most of them were managed with wheelchairseating modifications and 33 patients were fitted with braces in an attempt to slow curve progression. Surgically were managed 24 patients with spine arthrodesis, 5 of them abroad (USA-Eng-land-France). The older patients (> 17 years wheelchair-bound) were frequently, because of impaired general health, not suitable candidates for surgery. Pulmonary function was examined in 84 patients suffering from Duchenne’s muscular dystrophy. The crucial age, were pulmonary function has fallen dramatically (FVC< 40%), was between ages 12–15 years. In conclusion spine deformities are very common in patients suffering from neuromuscular diseases. Because of the rapid deterioration of the general health of these patients spine arthrodesis should be performed early, in the patients severely affected, between ages 12–15 years

Objective: To demonstrate possible advantages of combined (motor and sensory) versus single modality (either motor or sensory) intraoperative spinal cord monitoring. Design: Retrospective and prospective clinical study. Materials and Methods: One hundred and twenty-six consecutive operations in 97 patients had peroperative monitoring the lower limb motor evoked potentials (MEPs) to multi- pulse transcranial electrical stimulation (TES), and tibial nerve somatosensory evoked potentials (SEPs). Seventy-nine patients had spinal deformity surgery, and eighteen had surgery for trauma, tumor or disc herniation. Results: Combined motor and sensory monitoring was successfully achieved in 104 of 126 (82%) operations. Monitoring was limited to MEPs alone in two, and SEPs alone in eighteen cases. Neither MEPs nor SEPs were obtainable in two cases with Friedreich’s ataxia. Significant evoked potentials (EP) changes occurred in one or both modalities in 16 patients, in association with instrumentation (10) or systemic changes (6). After appropriate remedial measures, SEPs recovered either fully or partially in all cases (8/8) and MEPs in 10/15. New neurodeficits developed post-operatively in six of the sixteen patients with abnormal EPs, including two in whom SEPs had either not changed or recovered fully after remedial measures. One patient developed S3–5 sensory loss despite full recovery of both SEPs and MEPs. Two patients without neurological consequences had persistent MEP changes. Normal MEPs (but not SEPs) at the end of the operation correctly predicted the absence of new motor deficits. There were no false negative MEP changes. Conclusion: MEPs are more sensitive than SEPs, but may rarely raise false positive alarm. SEPs are unaffected by anaesthetics and can be monitored more frequently. Combined monitoring is safe, complimentary to each other, and increases sensitivity and predictivity of adverse neorological consequences. True incidence of false positive MEP or SEP changes are difficult to define. Remedial measures after monitoring changes may help cord ischaemia to recover and absence of neurological deficit, therefore, may not indicate a false positive monitoring change

Neurological scoliosis differs from idiopathic type for some peculiar features that negatively affect operative time and blood loss during surgical treatment. To reduce the rate of complications in neurological scoliosis, an hybrid construct based on combined lumbar pedicle screws and Universal Clamps (UC) at thoracic levels can be used. The aim of our study was to assess the validity of the hybrid construct in neurological scoliosis treatment respect to technical success (deformity correction), operative time and blood loss, in a prospective series of patients with preoperative Cobb angle > 100°. Between 2002 and 2008 we treated 15 patients (3 M, 12 F) affected by neurological scoliosis with preoperative Cobb angle > 100° (107±4°) by hybrid construct. The mean age was 14 years (range 10–17). The etiology was cerebral palsy in 12 cases, Friedreich’s ataxia in 2 cases and Aicardi Syndrome in one case. All patients were treated by posterior access to stabilize each affected level, combining screws (Socore TM), UC and hooks in an hybrid construct. In 3 patients a secondary posterior access was achieved in order to strengthen the UC effect, adding a concave costotomy. Skull traction by sling and pelvic countertraction to control obliquity were used in all cases. Pelvic instrumentation provided iliosacral screw fixation according to Dubousset or iliac fixation in accordance with Sponseller. Two concave rods and one convex were used in all assembly. The average percentage of correction was 70% (32±7°). Mean operative time was 4 hours with mean blood loss of 1800 ml. We used a mean of 6 transpedicular screws (range 4–11), 7 UC (5–9) and 5 hooks (4–6) in our assembly. Mean follow-up time was 36 months (range 12–84), with an average loss of correction of 7°. The hybrid construct (lumbar transpedicular screws, thoracic Universal Clamps, pedicle-transverse hooks at the upper end of the curve) appears safe and effective in treatment of neurological scoliosis > 100°. This assembly provides a good correction of the deformity and reduces operative time, radiation exposure and blood loss respect to all-screws constructs. Sublaminar acrylic loops (Universal Clamp) have the same stress resistance in comparison with steel or titanium alloy sublaminar wires. Moreover, the simplicity of implant and tensioning of the strips is associated with the possibility of re-tensioning and progressive correction, providing a better capacity of managing the kyphotic component in case of thoracic lordosis. Among neurological scoliosis treatments, the hybrid construct can be considered a valid option due to the advantages of shortening the operative time and diminishing the risks of vascular and neurological complications

The development of spinal deformity in children with underlying neurodisability can affect their ability to function and impact on their quality of life, as well as compromise provision of nursing care. Patients with neuromuscular spinal deformity are among the most challenging due to the number and complexity of medical comorbidities that increase the risk for severe intraoperative or postoperative complications. A multidisciplinary approach is mandatory at every stage to ensure that all nonoperative measures have been applied, and that the treatment goals have been clearly defined and agreed with the family. This will involve input from multiple specialities, including allied healthcare professionals, such as physiotherapists and wheelchair services. Surgery should be considered when there is significant impact on the patients’ quality of life, which is usually due to poor sitting balance, back or costo-pelvic pain, respiratory complications, or problems with self-care and feeding. Meticulous preoperative assessment is required, along with careful consideration of the nature of the deformity and the problems that it is causing. Surgery can achieve good curve correction and results in high levels of satisfaction from the patients and their caregivers. Modern modular posterior instrumentation systems allow an effective deformity correction. However, the risks of surgery remain high, and involvement of the family at all stages of decision-making is required in order to balance the risks and anticipated gains of the procedure, and to select those patients who can mostly benefit from spinal correction.

Aims

It is uncertain whether instrumented spinal fixation in nonambulatory children with neuromuscular scoliosis should finish at L5 or be extended to the pelvis. Pelvic fixation has been shown to be associated with up to 30% complication rates, but is regarded by some as the standard for correction of deformity in these conditions. The incidence of failure when comparing the most caudal level of instrumentation, either L5 or the pelvis, using all-pedicle screw instrumentation has not previously been reported. In this retrospective study, we compared nonambulatory patients undergoing surgery at two centres: one that routinely instrumented to L5 and the other to the pelvis.

We report the incidence of and risk factors for complications after scoliosis surgery in patients with Duchenne muscular dystrophy (DMD) and compare them with those of other neuromuscular conditions.

We identified 110 (64 males, 46 females) consecutive patients with a neuromuscular disorder who underwent correction of the scoliosis at a mean age of 14 years (7 to 19) and had a minimum two-year follow-up. We recorded demographic and peri-operative data, including complications and re-operations.

There were 60 patients with cerebral palsy (54.5%) and 26 with DMD (23.6%). The overall complication rate was 22% (24 patients), the most common of which were deep wound infection (9, 8.1%), gastrointestinal complications (5, 4.5%) and hepatotoxicity (4, 3.6%). The complication rate was higher in patients with DMD (10/26, 38.5%) than in those with other neuromuscular conditions (14/84, 16.7% (p = 0.019). All hepatotoxicity occurred in patients with DMD (p = 0.003), who also had an increased rate of deep wound infection (19% vs 5%) (p = 0.033). In the DMD group, no peri-operative factors were significantly associated with the rate of overall complications or deep wound infection. Increased intra-operative blood loss was associated with hepatotoxicity (p = 0.036).

In our series, correction of a neuromuscular scoliosis had an acceptable rate of complications: patients with DMD had an increased overall rate compared with those with other neuromuscular conditions. These included deep wound infection and hepatotoxicity. Hepatotoxicity was unique to DMD patients, and we recommend peri-operative vigilance after correction of a scoliosis in this group.

Cite this article: Bone Joint J 2014; 96-B:943–9.

Technological advances and shorter rescue times have allowed early and effective resuscitation after trauma and brought attention to the host response to injury. Trauma patients are at risk of progressive organ dysfunction from what appears to be an uncontrolled immune response. The availability of improved techniques of molecular diagnosis has allowed investigation of the role of genetic variations in the inflammatory response to post-traumatic complications and particularly to sepsis.

This review examines the current evidence for the genetic predisposition to adverse outcome after trauma. While there is evidence supporting the involvement of different polymorphic variants of genes in determining the post-traumatic course and the development of complications, larger-scale studies are needed to improve the understanding of how genetic variability influences the responses to post-traumatic complications and pharmacotherapy.