Neuromuscular Choristoma: Report of Five Cases With CTNNB1 Sequencing.

Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for ß-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P. To understand the pathogenesis of NMC, we tested CTNNB1 status in 5 cases of NMC whether or not they were associated with DF. The screening of mutations in CTNNB1 gene was based on amplicon deep sequencing using the ION Proton platform. Three patients had the S45F mutation; in 2 the mutation was common to both lesions and in one the DF was wild type while the NMC had the S45F mutation. One patient had a T41A mutation in the NMC and no associated DF. In the last patient, the DF lesion had a T41A mutation; there was no lesion with the S45P mutation. The presence of similar CTNNB1 mutations in NMC/DF-associated lesions and sporadic DF reinforces the relationship between both lesions and points to a common pathogenic mechanism.

Comparison Between Supraclavicular Versus Video-Assisted Intrathoracic Phrenic Nerve Section for Transfer in Patients With Traumatic Brachial Plexus Injuries: Case Series.

BACKGROUND: The phrenic nerve has been extensively reported to be a very powerful source of transferable axons in brachial plexus injuries. The most used technique used is supraclavicular sectioning of this nerve. More recently, video-assisted thoracoscopic techniques have been reported as a good alternative, since harvesting a longer phrenic nerve avoids the need of an interposed graft. OBJECTIVE: To compare grafting vs phrenic nerve transfer via thoracoscopy with respect to mean elbow strength at final follow-up. METHODS: A retrospective analysis was conducted among patients who underwent phrenic nerve transfer for elbow flexion at 2 centers from 2008 to 2017. All data analysis was performed in order to determine statistical significance among the analyzed variables. RESULTS: A total of 32 patients underwent supraclavicular phrenic nerve transfer, while 28 underwent phrenic nerve transfer via video-assisted thoracoscopy. Demographic characteristics were similar in both groups. A statistically significant difference in elbow flexion strength recovery was observed, favoring the supraclavicular phrenic nerve section group against the intrathoracic group (P = .036). A moderate though nonsignificant difference was observed favoring the same group in mean elbow flexion strength. Also, statistical differences included patient age (P = .01) and earlier time from trauma to surgery (P = .069). CONCLUSION: Comparing supraclavicular sectioning of the nerve vs video-assisted, intrathoracic nerve sectioning to restore elbow flexion showed that the former yielded statistically better results than the latter, in terms of the percentage of patients who achieve at least level 3 MRC strength at final follow-up. Furthermore, larger scale prospective studies assessing the long-term effects of phrenic nerve transfers remain necessary.

Benefits of spinal meningioma resection.

BACKGROUND: Spinal meningiomas account for approximately 40% of intradural extramedullary tumors. As they are usually slow growing, some patients are often diagnosed late in the clinical course when they have developed myelopathy. METHODS: Here, we retrospectively studied a cohort of 51 patients undergoing surgery for spinal meningiomas. The median follow-up period was 45.9 months (range, 1-168 months). Assessment included evaluation of functional outcomes (e.g., comparison of the pre and postoperative status using the modified McCormick Functional Scale) and identification of prognostic factors. RESULTS: Seventeen patients with grade IV (McCormick Scale) neurological deficits on admission underwent surgical resection; 4 of 5 grade III (McCormick Scale) and 14 patients (Grade IV) improved within 2.11 months (mean time) postoperatively. There was no surgical mortality and the morbidity rate was 16%. CONCLUSION: Patients with advanced neurological deficits/myelopathy (Grades III or IV on the McCormick Scale) improved following surgical resection of spinal meningiomas.

Idiopathic Spinal Cord Herniation­Case Report

Idiopathic spinal cord herniation is a rare cause of progressivemyelopathy, especially in the absence of a history of spinal or surgical trauma. The radiological diagnosis ismade through a myelography or an MRI exam. The spinal cord is pushed anteriorly, buffering the dural defect and leading inmost cases to Brown-Séquard syndrome. The present study describes the case of a male patient with a clinical picture of progressive thoracicmyelopathy. In the clinical and radiological investigation, an idiopathic spinal cord herniation on the chest level was identified. During the surgery, the spinal cord was reduced to the natural site, taking its usual elliptical shape, and the dural defect was repaired with a dural substitute. The numbness of the patient improved, and the shocks in the lower limbs disappeared. A postoperative MRI confirmed the surgical reduction of the herniation and the restoration of the anterior cerebrospinal fluid (CSF) column to the spinal cord. The authors describe the clinical, radiological, intraoperative, and postoperative evolution.

Kyphectomy in meningomyelocele children: surgical technique, risk analysis, and improvement of kyphosis.

PURPOSE: Kyphosis is a major complication of spina bifida, causing skin ulcers and osteomyelitis. This study examined the clinical and surgical characteristics of eight patients who underwent surgery, as well as improvement of their postoperative kyphosis angulations. METHOD: The authors reviewed eight cases submitted to surgery between 2006 and 2010. Surgical intervention was indicated for osteomyelitis and recurrent ulcers at the curvature apex. Osteotomies and spine stabilization were performed. The patients' clinical characteristics were analyzed, as were the surgical techniques employed, variables of surgical complications, and angle range of the kyphosis deformity postcorrection. RESULTS: There were no deaths. The average age at the time of surgery was 11 years old. The level of neurological injury was T10 in four patients and T12 in four. Average amount of bleeding during surgery was 1,442 ml, (range, 340 to 3,200 ml). Improvement of kyphosis angle was evident in all patients. The average difference between preoperative and postoperative kyphosis angle was 63.2. CONCLUSIONS: Surgery performed by a multidisciplinary team minimizes risks. Despite the high number of complications published in the literature, the results found in this study were excellent with regards to improving kyphosis angle, as well as facilitating rehabilitation and daily care of children.

Spinal cord trauma in children under 10 years of age: clinical characteristics and prevention.

PURPOSE: This study analyzed the clinical characteristics of spinal cord injury (SCI) in children 10 years of age and younger, forms of prevention, and ways to improve treatment. METHODS: Ninety-three children were reviewed between 1996 and 2009. The variables studied were type, age, cause, neurological level, association between SCI and traumatic brain injury (TBI), arthrodesis surgery, time elapsed between trauma and diagnosis, and causes of death. The statistical evaluations were done using the chi-square and ANOVA scales, in the SPSS program version 11.0. RESULTS: The most common cause was automobile crash accidents. Getting run over by a car was second (29.1 %), followed by firearm injuries (11.8 %). The thoracic spine was the most commonly impacted area. Evaluation showed that 83.9 % had complete neurological injury. Associated TBI was present in 35.5 % of the cases. Only 21.5 % of the patients required arthrodesis of the spine. In 31.2 % of the cases, myelopathy was not diagnosed at the time of the accident. There was no statistical correlation between TBI and a delayed diagnosis of SCI (p=0.231). Five children (5.4 %) died. CONCLUSIONS: The study showed that the cause of the trauma is associated to the child's age and that prevention is important. Trauma from automobile crash accidents was the main cause, and, in older children, firearm injuries are an important risk. Spinal cord injury was not always diagnosed in children at the time of accident. Educating family members and training emergency teams to adequately treat children with multiple traumas are measures that can help reduce the incidence of SCIs and neurological damage.