Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution.

OBJECTIVE: To evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for patients with NF type 1 (NF1) and schwannomatosis (SWN). MATERIALS AND METHODS: This retrospective study reviewed patients with confirmed or suspected NF1 and SWN discussed in weekly MDC from March to July 2021. Demographic data collected included patient age, sex, pre-conference and post-conference diagnosis, radiological studies reviewed, and provider specialties in attendance. Outcomes reported included changes in imaging interpretation and treatment plans, changes in post-conference diagnosis relative to pre-conference diagnosis, and time to completion of the recommended change in treatment. RESULTS: Data from 17 MDC "pre-conference" lists included 75 patients (38 female, 37 males, mean age (years): 38 (range: 6-80)) with NF1 (52%, 39/75) and SWN (36%, 27/75) discussed over a total of 91 case reviews. 18.7% (14/75) of all patients had NF2-related SWN, and 17.3% (13/75) of all patients had non-NF2 SWN. The MDC led to changes in imaging interpretation in 18.7% and changes in patient management in 74.7% (diagnostic testing (n = 52), surgical plan (n = 24), medical treatment (n = 9), clinical trial status (n = 4), and radiation treatment (n = 1)) of cases. Among patients for whom a change in management was recorded, 91% (62/68) completed at least one recommendation (mean time to completion (days): 41.4 (range: 0-278)). CONCLUSION: Weekly MDC changes the diagnostic and therapeutic management of the majority of patients discussed (74.7%) and promotes a high adherence rate to recommendations (91%).

Supinator to Anterior Interosseous Nerve Transfer to Restore Finger Flexion in Spinal Cord and Peripheral Nerve Injury.

PURPOSE: Restoration of pinch and grasp is a chief concern of patients with cervical spinal cord injury or peripheral nerve injury involving the anterior interosseous nerve (AIN). We hypothesize that supinator nerve-to-AIN (Sup-AIN) nerve transfer is a viable option for AIN neurotization. METHODS: We performed a retrospective review of patients who received Sup-AIN. Reported outcomes included Medical Research Council strength of the flexor digitorum profundus and flexor pollicis longus and passive range of digit motion. Patients with <12 months of follow-up were excluded. RESULTS: Eleven patients underwent Sup-AIN, eight with peripheral nerve injury, and three with spinal cord injury. Three patients were excluded because of insufficient follow-up. Average follow-up was 17 months (range: 12-25 months). Six patients had M4 recovery (75%), one patient had M3 recovery (12.5%), and one did not recover function because of severe stiffness (12.5%). We observed no complications or donor site morbidity in our patients. CONCLUSIONS: The Sup-AIN nerve transfer is an effective option to restore digital flexion in patients with peripheral nerve injury or spinal cord injury involving the AIN motor distribution. In comparison to previously described extensor carpi radialis brevis to AIN and brachialis to AIN nerve transfers, Sup-AIN offers the benefits of a more expendable donor nerve and shorter regenerative distance, respectively. The one failed Sup-AIN in our series highlights the importance of patient selection. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

Development and validation of a prediction model for outcomes after transaxillary first rib resection for neurogenic thoracic outlet syndrome following strict Society for Vascular Surgery diagnostic criteria.

OBJECTIVE: Neurogenic thoracic outlet syndrome (NTOS) is the most common form of thoracic outlet syndrome. However, NTOS has remained difficult to diagnose and treat successfully. The purpose of the present study was to generate a predictive clinical calculator for postoperative outcomes after first rib resection (FRR) for NTOS. METHODS: We performed a retrospective review of patients who had undergone FRR for NTOS at a single tertiary care institution between 2016 and 2020. A multivariate stepwise logistic regression analysis was performed to assess the association of the percentage of improvement after FRR with the patient baseline characteristics, pertinent clinical characteristics, and diagnostic criteria set by the Society for Vascular Surgery. The primary outcome was subjective patient improvement after FRR. A prediction risk calculator was developed using backward stepwise multivariate logistic regression coefficients. Bootstrapping was used for internal validation. RESULTS: A total of 208 patients (22.2% male; mean age, 35.8 ± 12.8 years; median follow-up, 44.9 months) had undergone 243 FRRs. Of the 208 patients, 94.7% had had symptoms localized to the supraclavicular area, and 97.6% had had symptoms in the hand. All the patients had had positive symptoms reproduced by the elevated arm stress test and upper limb tension test. Another reasonably likely diagnosis was absent for all the patients. Of the 196 patients who had received a lidocaine injection, 180 (93.3%) had experienced improvement of NTOS symptoms. Of the 95 patients who had received a Botox injection, 82 (74.6%) had experienced improvement of NTOS symptoms. Receiver operating characteristic curve analysis was used to assess the model. The area under the curve for the backward stepwise multivariate logistic regression model was 0.8. The multivariate logistic regression analyses revealed that the significant predictors of worsened clinical outcomes included hand weakness (adjusted odds ratio [aOR], 4.28; 95% confidence interval [CI], 1.04-17.74), increasing age (aOR, 0.93; 95% CI, 0.88-0.99), workers' compensation or litigation case (aOR, 0.09; 95% CI, 0.01-0.82), and symptoms in the dominant hand (aOR, 0.20; 95% CI, 0.05-0.88). CONCLUSIONS: Using retrospective data from a single-institution database, we have developed a prediction calculator with moderate to high predictive ability, as demonstrated by an area under the curve of 0.8. The tool (available at: https://jhhntosriskcalculator.shinyapps.io/NTOS_calc/) is an important adjunct to clinical decision-making that can offer patients and providers realistic and personalized expectations of the postoperative outcome after FRR for NTOS. The findings from the present study have reinforced the diagnostic criteria set by the Society for Vascular Surgery. The calculator could aid physicians in surgical planning, referrals, and counseling patients on whether to proceed with surgery.

Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.

Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS activity. Plexiform neurofibromas (PN) are peripheral nerve sheath tumors that develop in patients with NF1 and are associated with substantial morbidity and for which, until recently, the only treatment was surgical resection. However, surgery carries several risks and a proportion of PN are considered inoperable. Understanding the genetic underpinnings of PN led to the investigation of targeted therapies as medical treatment options, and the MEK1/2 inhibitor selumetinib has shown promising efficacy in pediatric patients with NF1 and symptomatic, inoperable PN. In a phase I/II trial, most children (approximately 70%) achieved reduction in tumor volume accompanied by improvements in patient-reported outcomes (decreased tumor-related pain and improvements in quality of life, strength, and range of motion). Selumetinib is currently the only licensed medical therapy indicated for use in pediatric patients with symptomatic, inoperable NF1-PN, with approval based on the results of this pivotal clinical study. Several other MEK inhibitors (binimetinib, mirdametinib, trametinib) and the tyrosine kinase inhibitor cabozantinib are also being investigated as medical therapies for NF1-PN. Careful consideration of multiple aspects of both disease and treatments is vital to reduce morbidity and improve outcomes in patients with this complex and heterogeneous disease, and clinicians should be fully aware of the risks and benefits of available treatments. There is no single treatment pathway for patients with NF1-PN; surgery, watchful waiting, and/or medical treatment are options. Treatment should be individualized based on recommendations from a multidisciplinary team, considering the size and location of PN, effects on adjacent tissues, and patient and family preferences. This review outlines the treatment strategies currently available for patients with NF1-PN and the evidence supporting the use of MEK inhibitors, and discusses key considerations in clinical decision-making.

Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy.

BACKGROUND: Spinal conditions, such as scoliosis and spinal tumors, are prevalent in neurofibromatosis type 1 (NF1). Despite the recognized importance of their early detection and treatment, there remain knowledge gaps in how to approach these manifestations. The purpose of this study was to utilize the experience of a multidisciplinary committee of experts to establish consensus-based best practice guidelines (BPGs) for spinal screening and surveillance, surgical intervention, and medical therapy in pediatric patients with NF1. METHODS: Using the results of a prior systematic review, 10 key questions that required further assessment were first identified. A committee of 20 experts across medical specialties was then chosen based on their clinical experience with spinal deformity and tumors in NF1. These were 9 orthopaedic surgeons, 4 neuro-oncologists/oncologists, 3 neurosurgeons, 2 neurologists, 1 pulmonologist, and 1 clinical geneticist. An initial online survey on current practices and opinions was conducted, followed by 2 additional surveys via a formal consensus-based modified Delphi method. The final survey involved voting on agreement or disagreement with 35 recommendations. Items reaching consensus (≥70% agreement or disagreement) were included in the final BPGs. RESULTS: Consensus was reached for 30 total recommendations on the management of spinal deformity and tumors in NF1. These were 11 recommendations on screening and surveillance, 16 on surgical intervention, and 3 on medical therapy. Five recommendations did not achieve consensus and were excluded from the BPGs. CONCLUSION: We present a set of consensus-based BPGs comprised of 30 recommendations for spinal screening and surveillance, surgical intervention, and medical therapy in pediatric NF1.

Cryoanalgesia of the anterior femoral cutaneous nerve (AFCN) for the treatment of neuropathy-mediated anterior thigh pain: anatomy and technical description.

OBJECTIVE: To describe and illustrate the magnetic resonance imaging (MRI) anatomy of the anterior femoral cutaneous nerve (AFCN) and a new technique for cryoanalgesia of the AFCN for long-term analgesic treatment of recalcitrant AFCN-mediated neuropathic pain. MATERIALS AND METHODS: Using a procedural high-resolution MRI technique, we describe the MRI anatomy of the AFCN. Three patients (mean age, 48 years; range, 41-67 years) with selective nerve block-verified recalcitrant AFCN-mediated anterior thigh pain were enrolled to undergo cryoanalgesia of the AFCN. Procedures were performed under MRI guidance using clinical wide-bore MR imaging systems and commercially available cryoablation system with MR-conditional probes. Outcome variables included technical success, clinical effectiveness including symptom relief measured on an 11-point visual analog scale, frequency of complications, and procedure time. RESULTS: Procedural MRI allowed to successfully demonstrate the course of the AFCN, accurate cryoprobe placement, and monitoring of the ice ball, which resulted in technically successful iceball growth around the AFCN in all cases. All procedures were clinically effective, with median pain intensity decreasing from 8 (7-9) before the procedure to 1 (0-2) after the procedure. The cryoanalgesia effect persisted during a 12-month follow-up period in all three patients. No major complications occurred. The average total procedure time was 98 min (range, 85-125 min). CONCLUSION: We describe the MRI anatomy of the AFCN and a new technique for cryoanalgesia of the AFCN using MRI guidance, which permits identification of the AFCN, selective targeting, and iceball monitoring to achieve long-term AFCN-mediated neuropathic pain relief.

Artifact reduction by using alternating polarity stimulus pairs in intraoperative peripheral nerve action potential recording.

Intraoperative nerve action potential (NAP) recording permits direct study of an injured nerve for functional assessment of lesions in continuity. Stimulus artifact contamination often hampers NAP recording and interferes with its interpretation. In the present study, we evaluated the artifact reduction method using alternating polarity in peripheral nerve recording. Our study was conducted under controlled conditions in laboratory animals. NAPs were recorded from surgically exposed median or ulnar nerves. For the artifact reduction method with alternating polarity, two sequential recordings, one with normal and one with reversed stimulus polarity, were acquired and the signals from this recording pair were averaged. Simulation was also performed to further evaluate the effects of alternating polarity on the waveforms. The results are as follows: First, we found that this method worked for recordings with unsaturated electrical stimulus artifacts. Second, slightly unequal latencies occurred in an NAP pair, and this inequality contributed to a minimal loss of NAP amplitudes when averaging the two recordings. Third, perfect artifact cancelation and minimal signal loss were also demonstrated by simulation. Finally, we applied the method during nerve inching and demonstrated its usefulness in intraoperative NAP recordings as the method made the recording more resilient to short conduction distances. Thus, our findings demonstrate that this artifact reduction method can be used as a supplemental tool together with our previously described bridge grounding technique or the nonlifting nerve recording configuration to further improve intraoperative peripheral nerve recording. The method can be applied in clinical settings.

Intraneural perineurioma in neurofibromatosis type 2 with molecular analysis.

Intraneural perineuriomas are rare benign neoplasms. The gene associated with neurofibromatosis 2 (NF2) is located on chromosome 22q12, and mutations in NF2 are commonly seen in soft tissue perineuriomas. However, an association between NF2 mutations and intraneural perineuriomas (INPs) has not been well established. We present a 20-year-old male with NF2, multiple schwannomas and an intraneural perineurioma in the radial nerve at the spiral groove. Sequencing of NF2, SMARCB1, and LZTR1 was performed and demonstrated loss of the long arm of chromosome 22 including NF2, SMARCB1, and LZTR1, and a constitutional NF2:c.(-4577_-854)_(45-185)del alteration. We review the literature supporting two mutually exclusive pathways involving NF2 and TRAF7 mutations that lead to the development of INPs.

Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize outcomes. This review will discuss the imaging appearance of NF1, NF2, and SWN and highlight the important role that imaging plays in informing management decisions in people with tumors associated with these syndromes. Recent technological advances, including the role of both whole-body and localized imaging strategies, routine anatomic and advanced magnetic resonance (MR) imaging sequences such as diffusion-weighted imaging (DWI) with quantitative apparent diffusion coefficient (ADC) mapping, and metabolic imaging techniques (MR spectroscopy and positron emission testing) are discussed in the context of the diagnosis and management of people with NF1, NF2, and SWN based on the most up-to-date clinical imaging studies.

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. The transformation from plexiform neurofibroma (PNF) to malignant peripheral nerve sheath tumor (MPNST) is being clarified, along with new management and treatments for benign and premalignant tumors. Promising new cellular and in vivo models for understanding the musculoskeletal abnormalities in NF1, the development of NF2 or SWN associated schwannomas, and clarifying the cells that give rise to NF1-associated optic pathway glioma were presented. The interaction of neurofibromin and SPRED1 was described comprehensively, providing functional insight that will help in the interpretation of pathogenicity of certain missense variants identified in NF1 and Legius syndrome patients. Novel promising imaging techniques are being developed, as well as new integrative and holistic management models for patients that take into account psychological, social, and biological factors. Importantly, new therapeutic approaches for schwannomas, meningiomas, ependymomas, PNF, and MPNST are being pursued. This report highlights the major advances that were presented at the 2016 CTF NF conference.

Utility of Magnetic Resonance Imaging for Predicting Severity of Sciatic Nerve Injury.

OBJECTIVE: This study aimed to investigate the diagnostic accuracy of magnetic resonance (MR) imaging for categorizing sciatic peripheral nerve injury (PNI) as high-grade (Sunderland grades IV-V) or low-grade (Sunderland grades I-III) PNI. METHODS: In this institutional review board-approved, Health Insurance Portability and Accountability Act-compliant retrospective study, consecutive MR imaging of the pelvis and thighs, performed for the evaluation of traumatic sciatic neuropathy, was reviewed for sciatic nerve signal intensity, size, architectural distortion, bulbous enlargement, perineural fibrosis, discontinuity, and muscle denervation changes. Clinical data, electrodiagnostic testing, and surgical history were used to determine PNI grade (high, low). Descriptive and diagnostic performance statistics were applied. RESULTS: Of 24 patients, there were 12 high-grade and 12 low-grade PNI. There was no significant difference in signal intensity or size between high-grade and low-grade PNI (1.3 ± 0.5 cm vs 0.9 ± 0.3 cm, P = 0.09). The sensitivity and specificity for the presence of individual features in predicting high-grade injury were 83% and 67% for architectural distortion, 58% and 75% for bulbous enlargement, 50% and 83% for perineural fibrosis, 25% and 100% for discontinuity, and 67% and 75% for skeletal muscle denervation changes, respectively. Overall, the sensitivity and specificity of MR imaging for categorizing sciatic PNI as high grade was 75% and 83%, respectively. CONCLUSIONS: The MR characterization of PNI severity remains challenging. Useful features indicative of high-grade PNI include bulbous enlargement, perineural fibrosis, muscle denervation changes, and nerve discontinuity.

Diagnostic Accuracy of Selective 3-T MR Neurography-guided Retroperitoneal Genitofemoral Nerve Blocks for the Diagnosis of Genitofemoral Neuralgia.

Purpose To determine if 3-T magnetic resonance (MR) neurography-guided retroperitoneal genitofemoral nerve (GFN) blocks are safe and effective for the diagnosis of genitofemoral neuralgia. Materials and Methods Following institutional review board approval and informed consent, 26 subjects (16 men, 10 women; mean age, 42 years [range, 24-78 years]; mean body mass index, 28 kg/m2 [range, 20-35 kg/m2]) with intractable groin pain were included. By using a 3-T MR imaging system, intermediate-weighted turbo spin-echo pulse sequences, and MR-conditional needles, diagnostic MR neurography-guided GFN blocks were performed in the retroperitoneum. Outcome variables included technical success, procedure time, complications, and rates of positive and negative GFN blocks in association with therapeutic outcomes. For the assessment of a learning curve, Mann-Whitney test was used. P values ≤ .05 were considered to indicate a statistically significant difference. Results In 26 subjects, 30 retroperitoneal GFN blocks were performed. Twelve (40%) were performed with an anterior needle path, 12 (40%) with a lateral needle path, and six (20%) with a posterior needle path. GFN blocks were technically successful in 24 of 26 (92%) subjects, achieving appropriate scrotal anesthesia. No complications occurred. The time required for a GFN block was 40 minutes (range, 18-67 minutes). The rate of a successful GFN intervention after a positive GFN block was 88% (14 of 16). The rate of a successful intervention of an alternative target after a negative GFN block was 71% (five of seven). Conclusion Selective retroperitoneally directed MR neurography-guided GFN blocks are safe and effective with high technical success and positive effect on surgical decision making in patients with presumed genitofemoral neuralgia. © RSNA, 2017 Online supplemental material is available for this article.

High-resolution metal artifact reduction MR imaging of the lumbosacral plexus in patients with metallic implants.

OBJECTIVE: To assess the quality and accuracy of metal artifact reduction sequence (MARS) magnetic resonance imaging (MRI) for the diagnosis of lumbosacral neuropathies in patients with metallic implants in the pelvis. MATERIALS AND METHODS: Twenty-two subjects with lumbosacral neuropathy following pelvic instrumentation underwent 1.5-T MARS MRI including optimized axial intermediate-weighted and STIR turbo spin echo sequences extending from L5 to the ischial tuberosity. Two readers graded the visibility of the lumbosacral trunk, sciatic, femoral, lateral femoral cutaneous, and obturator nerves and the nerve signal intensity of nerve, architecture, caliber, course, continuity, and skeletal muscle denervation. Clinical examination and electrodiagnostic studies were used as the standard of reference. Descriptive, agreement, and diagnostic performance statistics were applied. RESULTS: Lumbosacral plexus visibility on MARS MRI was good (4) or very good (3) in 92% of cases with 81% exact agreement and a Kendall's W coefficient of 0.811. The obturator nerve at the obturator foramen and the sciatic nerve posterior to the acetabulum had the lowest visibility, with good or very good ratings in only 61% and 77% of cases respectively. The reader agreement for nerve abnormalities on MARS MRI was excellent, ranging from 95.5 to 100%. MARS MRI achieved a sensitivity of 86%, specificity of 67%, positive predictive value of 95%, and negative predictive value of 40%, and accuracy of 83% for the detection of neuropathy. CONCLUSION: MARS MRI yields high image quality and diagnostic accuracy for the assessment of lumbosacral neuropathies in patients with metallic implants of the pelvis and hips.

MRI features of peripheral traumatic neuromas.

OBJECTIVES: To describe the MRI appearance of traumatic neuromas on non-contrast and contrast-enhanced MRI sequences. METHODS: This IRB-approved, HIPAA-compliant study retrospectively reviewed 13 subjects with 20 neuromas. Two observers reviewed pre-operative MRIs for imaging features of neuroma (size, margin, capsule, signal intensity, heterogeneity, enhancement, neurogenic features and denervation) and the nerve segment distal to the traumatic neuroma. Descriptive statistics were reported. Pearson's correlation was used to examine the relationship between size of neuroma and parent nerve. RESULTS: Of 20 neuromas, 13 were neuromas-in-continuity and seven were end-bulb neuromas. Neuromas had a mean size of 1.5 cm (range 0.6-4.8 cm), 100 % (20/20) had indistinct margins and 0 % (0/20) had a capsule. Eighty-eight percent (7/8) showed enhancement. All 100 % (20/20) had tail sign; 35 % (7/20) demonstrated discontinuity from the parent nerve. None showed a target sign. There was moderate positive correlation (r = 0.68, p = 0.001) with larger neuromas arising from larger parent nerves. MRI evaluation of the nerve segment distal to the neuroma showed increased size (mean size 0.5 cm ± 0.4 cm) compared to the parent nerve (mean size 0.3 cm ± 0.2 cm). CONCLUSION: Since MRI features of neuromas include enhancement, intravenous contrast medium cannot be used to distinguish neuromas from peripheral nerve sheath tumours. The clinical history of trauma with the lack of a target sign are likely the most useful clues. KEY POINTS: • MRI features of neuromas include enhancement and lack of a target sign. • Contrast material cannot be used to distinguish traumatic neuromas from PNSTs. • Traumatic neuromas can simulate peripheral nerve neoplasms on imaging.

Impact of high resolution 3 tesla MR neurography (MRN) on diagnostic thinking and therapeutic patient management.

OBJECTIVE: To evaluate the impact of magnetic resonance neurography (MRN) on diagnostic thinking and therapeutic choices in patients with suspected peripheral neuropathy. METHODS: IRB approval was obtained for this HIPAA-compliant study. Questionnaires were administered to six surgeons regarding the diagnosis and treatment in 85 patients suspected of having peripheral neuropathy, before (pretest) and after (posttest) MRN. Multiple outcome measures related to diagnostic confidence and surgical decision-making were assessed. RESULTS: The final cohort included 81 patients (30 men and 51 women, age 47 ± 17 years). The following changes were observed from pretest to posttest questionnaires: 23% in nerve involvement (P < 0.05), 48% in degree of confidence of nerve involvement (P < 0.01), 27% in grade of injury (P < 0.05), 33% in differential diagnosis (P < 0.05), 63% in degree of confidence in need for surgery (P < 0.001), 41% in timing of surgery (P < 0.01), 30% in approach to surgery (P < 0.05), 58% in degree of confidence in approach to surgery (P < 0.001), 30% in estimated length of surgery (P < 0.05) and 27% in length of incision (P < 0.05). The dichotomous decision regarding surgical or nonsurgical treatment changed from pro to con in 17%. CONCLUSION: MRN results significantly influenced the diagnostic thinking and therapeutic recommendations of peripheral nerve surgeons. KEY POINTS: • In patients with peripheral neuropathy, MRN significantly impacts diagnostic thinking. • In patients with peripheral neuropathy, MRN significantly impacts therapeutic choices. • 3-T MRN should be considered in presurgical planning of patients with peripheral neuropathy.

Spectrum of suprascapular nerve lesions: normal and abnormal neuromuscular imaging appearances on 3-T MR neurography.

OBJECTIVE. In this article, we will review the normal anatomy and imaging features of various neuromuscular abnormalities related to suprascapular neuropathy. CONCLUSION. Suprascapular neuropathy can be difficult to distinguish from rotator cuff pathology, plexopathy, and radiculopathy. Electrodiagnostic studies are considered the reference standard for diagnosis; however, high-resolution 3-T MR neurography (MRN) can play an important role. MRN enables direct visualization of the nerve and simultaneous assessment of the cervical spine, brachial plexus, and rotator cuff.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a "state-of-the-field" for NF research in 2012.

MRI of sports-related peripheral nerve injuries.

OBJECTIVE: Sports-related peripheral nerve injuries are common among athletes and are often underrecognized because of symptom overlap with more usual sports-related bone, soft-tissue, and joint injuries. CONCLUSION: MRI plays an increasingly important role in the workup of peripheral nerve injuries and may reveal severe nerve abnormalities before they are diagnosed by electrodiagnostic testing or a clinical examination. Sport-specific peripheral nerve injuries and their MRI appearance will be discussed in this article.

Surgical Technique: Brachioradialis to Extensor Carpi Radialis Longus and Brevis Nerve Transfers for Tetraplegia.

Improving upper extremity function in high cervical spinal cord injury (SCI) patients with tetraplegia is a challenging task owing to the limited expendable donor muscles and nerves that are available. Restoring active wrist extension for these patients is critical because it allows for tenodesis grasp. This is classically achieved with brachioradialis (BR) to extensor carpi radialis brevis (ECRB) tendon transfer, but outcomes are suboptimal because BR excursion is insufficient and its origin proximal to the elbow further limits the functionality of the tendon transfer, particularly in the absence of elbow extension. As an alternative approach to restore wrist extension in patients with ICSHT group 1 SCI, we present the first clinical report of the BR to extensor carpi radialis longus (ECRL) and BR to ECRB nerve transfers.

Nerve Transfer Surgery in Acute Flaccid Myelitis: Prognostic Factors, Long-Term Outcomes, Comparison With Natural History.

BACKGROUND: Nerve transfer surgery is sometimes offered to patients with acute flaccid myelitis (AFM). The objectives of this study were to evaluate surgical efficacy, assess which clinical and neurophysiological data are valuable for preoperative planning, and report long-term outcomes. METHODS: This is a single-center, retrospective case series of patients with AFM who received nerve transfer surgery. All patients had preoperative electromyography and nerve conduction studies (EMG/NCS). Matched control muscles that did not receive nerve transfer surgery were defined in the same cohort. RESULTS: Ten patients meeting inclusion criteria received a total of 23 nerve transfers (19 upper extremity, four lower extremity). The mean age at symptom onset was 3.8 years, surgery was 0.5 to 1.25 years after diagnosis, and mean follow-up was 2.3 years (range 1.3 to 4.5 years). Among muscles with preoperative strength Medical Research Council (MRC) grade 0, muscles receiving nerve transfers performed significantly better than those that did not (MRC grade 2.17 ± 0.42 vs 0 ± 0, respectively, P = 0.0001). Preoperative EMG/NCS predicted worse outcomes in recipient muscles with more abundant acute denervation potentials (P = 0.0098). Donor nerves found to be partially denervated performed equally well as unaffected nerves. Limited data suggested functional improvement accompanying strength recovery. CONCLUSIONS: Nerve transfer surgery is an effective strategy to restore strength for patients with AFM with persistent, severe motor deficits. Postoperative outcomes in patients with complete paralysis are better than the natural history of disease. This study demonstrates the utility of preoperative clinical and electrophysiological data in guiding patient selection for nerve transfer surgery.