Scoliosis in RETT Syndrome: A National Referral Centre Experience.

STUDY DESIGN: This was a retrospective case series. OBJECTIVE: The objective of this study was to discuss the treatment challenges in scoliosis patients with Rett syndrome (RTT) in a national referral centre for RTT. We describe structural characteristics of curves, age of onset, genetic mutation, ambulation status, and treatment through RTT progression. Based on this unique experience, we aimed to suggest guidelines for scoliosis treatment in RTT patients. SUMMARY OF BACKGROUND DATA: RTT is a neurodevelopmental disorder associated with a mutation in the methyl-CpG binding protein 2 (MECP2) gene, primarily in females with significant features of growth failure, gastrointestinal and pulmonary dysfunction, ataxia, seizures, and intellectual disability. Scoliosis is the most common orthopedic manifestation of RTT and is present in 64%-75% of patients. No clear guidelines for scoliosis treatment in RTT are available, and typically patients are treated according to guidelines of another neuromuscular scoliosis. METHODS: Clinical and radiographic data were gathered, including MECP2 mutation type, scoliosis characteristics, preoperative treatment, surgical treatment, functional status, and postoperative follow-up. RESULTS: Our cohort included 102 patients with RTT. They were 36 who presented with scoliosis; 18 were treated surgically. C-curve was found in 17 patients and S-type in 19. Scoliosis treatment onset was 8.76 years in the C-type group and 13.88 years in the S-type group. The average curve at the time of surgery was 52.42 degrees. The average time until surgery was 2.44 years. Seventeen patients underwent posterior spinal fusion, and 1 patient underwent posterior spinal fusion+anterior spinal fusion with an average correction of 40 degrees. The most common mutation was R255X nucleotide (30% of cases). The most severe curves had mutations R168X and R270X nucleotides. CONCLUSIONS: We advise early monitoring for patients with RTT and scoliosis due to early and rapid progression. Common mutations found were R255X, R168X, R270X, and T158M. We recommend surgical treatment in every curve above 45 degrees, independently of age.

Acute Metastatic Spinal Cord Compression: Urgent Surgery versus Radiotherapy and Treatment Result Prediction versus Actual Results.

Background Context: The role of radiotherapy versus surgery in treating acute metastatic spinal cord compression (AMSCC) has changed over the years. Purpose: Our study evaluates neurological and functional outcomes following urgent surgery and radiotherapy (USFR) versus urgent radiotherapy alone in treating AMSCC. Study Design/Setting: A retrospective cohort of 54 patients with AMSCC with variable neurological deficits. Overall, 32 patients were treated with USFR, and 22 received urgent radiotherapy alone. Outcome Measures: Neurological status regarding the Asia and Frankel scores, continence and ambulation, and Kranofsky's functional score and patient life span comprised the outcome measures. Methods: This was a retrospective EMR study. Results: USFR and radiotherapy cohorts were similar in age, gender, tumor origin, and the number of spinal metastases. The most common cause of AMSCC was carcinoma of the breast (24.1%), followed by carcinoma of the lung (16.7%) and multiple myeloma (13%). Neurological status at AMSCC presentation was similar between cohorts regarding Asia and Frankel scores, continence and ambulation, and Kranofsky's functional score. Following USFR, 59.3% of the patients had a motor strength improvement, 31.3% regained sphincter function, and 34.4% regained ambulation, while 90% of the patients treated by radiotherapy did not show any improvement. One patient under radiotherapy lost sphincter function. The treatment received did not affect the patient's survival. A subanalysis of patients with a short life expectancy, by Tomita and Tokuhashi scores, showed missed prediction in 29.4% of cases. Conclusion: The study supports the beneficial effect of UFSR compared to urgent radiotherapy alone in treating AMSCC in all subgroups. Early surgery improved function, motor strength, sphincter control, and ambulation without affecting life span. Prognostic scores failed to predict life span in almost one-third of the patients, requiring further investigation.

Limitations of Plain Film Radiography in Identification of Hyperextension Fractures in Patients With Ankylosing Spinal Disorders.

STUDY DESIGN: Efficacy study. OBJECTIVES: To elucidate the limitations of radiography in patients with spinal ankylosing disorders (SAD) with an emphasis on thoracolumbar injuries, which have been less focused upon. METHODS: We searched our hospital's emergency room database for patients who underwent a total spine computed tomography (CT) following a diagnosis of SAD on radiographs following a minor fall. A high-quality presentation containing 50 randomly situated anteroposterior + lateral radiographs was created. Of these, 24 contained a hyperextension type fracture diagnosed by CT. Twelve physicians-4 spine surgeons, 4 senior orthopedic residents and 4 junior orthopedic residents were requested to identify the pathologic radiographs and note the fracture level. RESULTS: Fracture diagnosis stood at 65% for the best reader. When examining the different subgroups, the mean rate of diagnosis for spine surgeons was 55% and for orthopedic residents 32%. Mean diagnosis of thoracic fractures was 26%, of lumbar fractures was 55%, and for the entire thoracolumbar spine was 40%. The interobserver agreement (kappa coefficient) was found to be 0.37 for the entire group and 0.39 for spine surgeons. This finding was statistically significant. CONCLUSIONS: The simple radiograph is an inefficient modality for diagnosis of hyperextension type thoracolumbar fractures in patients with SAD. The poor interobserver agreement rate further amplifies this finding. Advanced imaging is recommended in these patients.

Psychometric properties of the Hebrew version of the Oswestry Disability Index.

BACKGROUND: Low back pain (LBP) is one of the most common health complaints, with lifetime prevalence rates as high as 84%. The Oswestry Disability Index (ODI) is often the measure of choice for LBP in both research and clinical settings and, as such, has been translated into 29 languages and dialects. Currently, however, there is no validated version of Hebrew-translated ODI (ODI-H). OBJECTIVE: To examine the psychometric properties of the ODI-H. METHODS: Cross-culturally appropriate translation into Hebrew was conducted. A convenience sample of 115 participants (Case Group) with LBP and 68 without LBP (Control Group) completed the ODI-H, SF-36 Health Survey, and two Visual Analog Scales (VAS). RESULTS: Internal consistency was α = 0.94 and test-retest reliability for 18 participants repeating the ODI-H was 0.97. No floor or ceiling effects were noted for Cases, although there was a floor effect for the Control Group. Scores were significantly different for the two groups, indicating discriminant validity. Concurrent validity was reflected by significant correlations with SF-36 scores, particularly the Physical Functioning and Bodily Pain subscales (-0.83 and -0.79, respectively) and with the VAS (0.84 and 0.79). CONCLUSIONS: The ODI-H is a valid and reliable measure of low back pain-related disability for the Hebrew-speaking public.

Magnetic resonance-guided focused ultrasound treatment of facet joint pain: summary of preclinical phase.

STUDY DESIGN: A phantom experiment, two thermocouple experiments, three in vivo pig experiments, and a simulated treatment on a healthy human volunteer were conducted to test the feasibility, safety, and efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) for treating facet joint pain. OBJECTIVE: The goal of the current study was to develop a novel method for accurate and safe noninvasive facet joint ablation using MRgFUS. SUMMARY OF BACKGROUND DATA: Facet joints are a common source of chronic back pain. Direct facet joint interventions include medial branch nerve ablation and intra-articular injections, which are widely used, but limited in the short and long term. MRgFUS is a breakthrough technology that enables accurate delivery of high-intensity focused ultrasound energy to create a localized temperature rise for tissue ablation, using MR guidance for treatment planning and real-time feedback. METHODS: We validated the feasibility, safety, and efficacy of MRgFUS for facet joint ablation using the ExAblate 2000® System (InSightec Ltd., Tirat Carmel, Israel) and confirmed the system's ability to ablate the edge of the facet joint and all terminal nerves innervating the joint. A phantom experiment, two thermocouple experiments, three in vivo pig experiments, and a simulated treatment on a healthy human volunteer were conducted. RESULTS: The experiments showed that targeting the facet joint with energies of 150-450 J provides controlled and accurate heating at the facet joint edge without penetration to the vertebral body, spinal canal, or root foramina. Treating with reduced diameter of the acoustic beam is recommended since a narrower beam improves access to the targeted areas. CONCLUSIONS: MRgFUS can safely and effectively target and ablate the facet joint. These results are highly significant, given that this is the first study to demonstrate the potential of MRgFUS to treat facet joint pain.

Selective computed tomography-guided perisciatic injection as a diagnostic tool in multiple hereditary exostoses.

Multiple osteochondromas, also known as multiple hereditary exostoses, is an autosomal-dominant disease. Multiple osteochondromas are characterized by the development of cartilage-capped bony tumors, known as osteochondromas. Osteochondromas can cause limb deformities, limb-length discrepancies, angular deformations, bursitis, and impingement of adjacent tendons or neurovascular structures. They have also been reported as a cause of sciatic pain. Sometimes, more than 1 location of neural compression exists, thereby presenting a difficult diagnostic challenge for treating physicians. This article describes a patient with multiple hereditary exostoses and accompanying severe sciatic pain who was referred for a revision decompressive spine surgery. The patient's functional impairment was such that he was unable to sit for a few minutes. A selective computed tomography-guided perisciatic nerve injection was performed to differentiate between lateral spinal stenosis and peripheral nerve compression or impingement by an existing large pelvic osteochondroma. The patient reported substantial relief and regained the ability to sit pain free immediately postoperatively. Excision of a proximal femur osteochondroma was performed based on the results of a selective perisciatic nerve injection, resulting in successful resolution of his sciatic pain and functional impairment. The current case is an example of the diagnostic challenge in treating patients with multiple anatomic lesions that can cause symptoms and demonstrate how selective computed tomography-guided perisciatic nerve injection can aid clinicians in obtaining an accurate diagnosis and choosing the most appropriate surgical management.

[Atypical femoral fractures in long-term osteoporotic treatment with bisphosphonates].

Recently, atypical femoral fractures, especially at the proximal part, were reported in the literature. Most of the reports discussed the relationship between those atypical fractures and chronic use of bisphosphonate drugs as prophylactic treatment for osteoporosis. As a result, the FDA (US Food and Drug Administration) published a statement on October 2010, which was the conclusion of a multidisciplinary working group. The FDA decided to add warnings for every bisphosphonate drug which was given as prophylactic treatment for osteoporosis in the USA. In this review, we will present the bisphosphonate drugs, the presenting symptoms of patients who suffer from the pathologic fracture, the radiologic characteristics and the surgical treatment. We will present the work of a Task Force of the American Society for Bone and Mineral Research and the FDA statements.

External fixation of the spine: surgical salvage option for complex spinal infections.

The use of external fixation has been described for various conditions but has never become a popular technique in spine surgery. The objective of this study is to describe the successful application of external fixation of the spine in three cases of complex spine infection. The first case is a 51-year-old male with T2-T3 spinal osteomyelitis secondary to Actinomyces lung infection causing epidural abscess and signs of cord compression. Laminectomy and debridement of the epidural abscess was performed, and external fixation was applied percutaneously spanning C7-T5. The second case is an 18-year-old soldier with a gunshot wound to the abdominal cavity with small bowel perforation and fracture of L1 and L2. Retroperitoneal infection developed at this level and was drained percutaneously. External fixation of T10-L4 was performed. The third case is a 60-year-old male who underwent resection of a locally invasive lung tumor at T3. Postoperative CSF leak and widespread infection was noted, mandating debridement and removal of the infected hardware. External fixation of T1-T8 was applied for temporary stabilization. All patients tolerated the procedure well, and rapid ambulation and physical therapy was initiated. Under broad-spectrum antibiotic therapy, resolution of infection was noted in all three cases as well as good sagittal and coronal axis alignment on follow-up imaging. We conclude that external fixation of the spine is a safe and effective surgical technique that can be considered as salvage treatment for spinal infections accompanied by segmental spinal instability.

The use of external fixation for the treatment of spine infection with Actinomyces bacillus.

OBJECTIVE: External fixation can be used for stabilization of the spine in salvage cases, especially in cases of infection of the spine. The advantages of this method are avoiding the needs for internal fixation devices and for postoperative bracing. The literature on this is scant. Reported is a rare case of osteomyelitis of the D2 vertebra with an epidural abscess caused by Actinomyces israelii that spread from the lung and was treated by decompression and external fixation. METHODS: A 51-year-old man with right upper lobe pneumonia due to A. israelii coccobacillus developed osteomyelitis of the D2 vertebra and an epidural abscess with a gradual paraparesis. He underwent a laminectomy of D1-D3 and 3 weeks later stabilization of the upper thoracic spine using a tubular external fixator that was inserted from C7-D1 to D3-D4. The patient was treated with antibiotic intravenously and later orally. After 2 months, the external fixator was removed. RESULTS: At the last follow-up, the patient had no fever, the erythrocyte sedimentation rate and C-reactive protein level had normal values, and there was only a slight limitation in the range of motion of the cervical paraparesis. Radiography and magnetic resonance imaging demonstrated stabilization of the affected segment without any sign of active osteomyelitis. There were no complications associated with the use of the external fixator. CONCLUSIONS: The use of external fixation offers an appropriate alternative for stabilization of the spine as a salvage procedure. The procedure could be performed easily and without any major complications. Especially for the treatment of complicated cases of spinal infection, the use of an external fixator can be of great benefit.

Results of lumbar disk prosthesis after a follow-up period of 48 months.

BACKGROUND: Damage to the intervertebral disk is usually corrected by means of a prosthesis. OBJECTIVES: To report the outcome of the artificial lumbar disk replacement with the Charité SB III disk prosthesis in 20 patients after a 48 month follow-up. METHODS: The 20 patients were evaluated clinically and radiographically during this period. Preoperative diagnosis included degenerative diskopathy in 17 patients and failed posterior conventional diskectomy in 3. The prosthesis was implanted at one level in 17 patients and bi-level implantation was performed in the other 3 patients. RESULTS: Eighty percent of patients reported satisfactory to very good results. Poor results were reported by four patients, one of whom underwent posterolateral fusion and another is waiting for the same operation. There were two dislocations of the prosthesis followed by immediate revision surgery. CONCLUSIONS: Contraindications for surgery appear to be the principal cause of failure rather than the prosthesis itself.

Perirectal urinoma from ureteral injury incurred during spinal surgery mimicking rectal perforation on computed tomography scan.

STUDY DESIGN: A case of a perirectal urinoma from a ureteral injury incurred during spinal surgery is reported. OBJECTIVES: To report ureteral injury as a rare complication of spinal surgery with misleading CT findings, and to emphasize the necessity of delayed scans in the diagnosis. SUMMARY OF BACKGROUND DATA: A ureteral injury is a rare complication of spinal surgery. In such a case, extravasated urine collects in the retroperitoneum and pelvis. This fluid opacifies after intravenous contrast, and delayed scans are necessary in the diagnosis. As clinical findings are usually nonspecific, CT is essential for the correct diagnosis. METHODS: A 55-year-old woman underwent discectomy and insertion of a disc prosthesis through an anterior left retroperitoneal approach. Fever and abdominal pain developed after 3 days. Computed tomography scan was performed to evaluate the patient's symptoms. RESULTS: Computed tomography with repeated delayed scans showed an opacifying fluid collection surrounding the rectum, remote from the site of surgery, yet compatible with a urinoma. Antegrade pyelography demonstrated an injury of the left ureter with extravasating urine, dissecting caudally. After a temporary nephrostomy, the patient recovered. CONCLUSIONS: Although ureteral injury after abdominal surgery is not so uncommon, it is very rarely incurred during spinal surgery. Because symptoms are usually nonspecific, the radiologist should be aware of this possible complication, and should perform CT with intravenous contrast material and with delayed scans because a rapid-sequence helical CT may not yet show opacification of the fluid present in the abdomen. This is the hallmark of the diagnosis.