Evaluating the Ability of Brachial Plexus-Injured Patients to Control an Externally Powered (Myoelectric) Hand Prosthesis.

BACKGROUND: Restoration of hand function after traumatic brachial plexus injury (BPI) remains a formidable challenge. Traditional methods such as nerve or free muscle transfers yield suboptimal results. Advancements in myoelectric prostheses, characterized by novel signal acquisition and improved material technology, show promise in restoring functional grasp. This study evaluated the ability of adults with a BPI injury to control an externally powered prosthetic hand using nonintuitive signals, simulating the restoration of grasp with a myoelectric prosthesis. It also assessed the effectiveness of a comprehensive multidisciplinary evaluation in guiding treatment decisions. METHODS: A multidisciplinary brachial plexus team assessed adults with compromised hand function due to BPI. The feasibility of amputation coupled with fitting of a myoelectric prosthesis for grasp reconstruction was evaluated. Participants' ability to control a virtual or model prosthetic hand using surface electromyography (EMG) as well as with contralateral shoulder motion-activated linear transducer signals was tested. The patient's input and injury type, along with the information from the prosthetic evaluation, were used to determine the reconstructive plan. The study also reviewed the number of participants opting for amputation and a myoelectric prosthetic hand for grasp restoration, and a follow-up survey was conducted to assess the impact of the initial evaluation on decision-making. RESULTS: Of 58 subjects evaluated, 47 (81%) had pan-plexus BPI and 42 (72%) received their initial assessment within 1 year post-injury. Forty-seven patients (81%) could control the virtual or model prosthetic hand using nonintuitive surface EMG signals, and all 58 could control it with contralateral uniscapular motion via a linear transducer and harness. Thirty patients (52%) chose and pursued amputation, and 20 (34%) actively used a myoelectric prosthesis for grasp. The initial evaluation was informative and beneficial for the majority of the patients, especially in demonstrating the functionality of the myoelectric prosthesis. CONCLUSIONS: The study indicates that adults with traumatic BPI can effectively operate a virtual or model myoelectric prosthesis using nonintuitive control signals. The simulation and multidisciplinary evaluation influenced informed treatment choices, with a high percentage of patients continuing to use the myoelectric prostheses post-amputation, highlighting its long-term acceptance and viability. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Precision oncology in neurofibromatosis type 1: quantification of differential sensitivity to selumetinib in plexiform neurofibromas using single-cell RNA sequencing.

PURPOSE: Selumetinib is an FDA-approved targeted therapy for plexiform neurofibromas in neurofibromatosis type 1(NF1) with durable response rates seen in most, but not all patients. In this proof-of-concept study, we demonstrate single-cell RNA sequencing(scRNAseq) as a technique for quantifying drug response to selumetinib at the single cell level. METHODS: scRNAseq data from neurofibroma biopsies was obtained from a public genomics repository. Schwann cell populations were identified through standard clustering techniques and single-cell selumetinib sensitivity was quantified on a scale of 0(resistant) to 1(sensitive) based on the expression pattern of a 500 gene selumetinib sensitivity signature from the BeyondCell sensitivity library. RESULTS: A total of seven plexiform neurofibromas were included in our final analysis. The median absolute number of Schwann cells across samples was 658 cells (IQR: 1,029 cells, Q1-Q3: 135 cells to 1,163 cells). There was a statistically significant difference in selumetinib sensitivity profiles across samples (p < 0.001). The tumor with the highest median selumetinib sensitivity score had a median selumetinib sensitivity score of 0.64(IQR: 0.14, Q1-Q3: 0.59-0.70, n = 112 cells) and the tumor with the lowest median selumetinib sensitivity score had a median score of 0.37 (IQR: 0.21, Q1-Q3: 0.27-0.48, n = 1,034 cells). CONCLUSIONS: scRNAseq of plexiform neurofibroma biopsies reveals differential susceptibilities to selumetinib on a single cell level. These findings may explain the partial responses seen in clinical trials of selumetinib for NF1 and demonstrate the value of collecting scRNAseq data for future NF1 trials.

The paraneurium and the tumefactive appearance of peripheral nerve neurolymphomatosis: illustrative case.

BACKGROUND: Peripheral neurolymphomatosis (NL) is an often-misdiagnosed condition characterized by lymphomatous infiltration within the peripheral nerves. Its rarity and complexity frequently result in delayed diagnosis and suboptimal patient outcomes. This study aims to elucidate the role of the paraneurium (circumneurium) in NL, emphasizing its diagnostic and therapeutic significance. OBSERVATIONS: A 72-year-old man presented with lesions on his right lower eyelid. Initial diagnostics were inconclusive until an excisional biopsy confirmed extranodal marginal zone lymphoma. Following a complete metabolic response to rituximab treatment, the patient relapsed 14 months later with progressive lymphoma and bilateral sciatic nerve involvement, as confirmed by positron emission tomography-computed tomography and magnetic resonance imaging. LESSONS: This paper underscores the critical role of the paraneurium in NL, enhancing understanding of its pathophysiology. Integrating advanced imaging techniques have proved essential in accurately identifying neurolymphomatous involvement within the paraneurium. This study paves the way for more effective management strategies in NL and similar conditions, focusing on improving patient care and outcomes.

Neuromuscular choristoma-associated desmoid-type fibromatosis of the brachial plexus: Additional evidence to support a nerve-driven mechanism.

BACKGROUND: We have recently described circumferential nerve involvement of neuromuscular choristoma associated with desmoid-type fibromatosis (NMC-DTF) in cases involving the sciatic nerve, supporting a nerve-derived mechanism for the DTF. We wondered whether a similar growth pattern occurs in cases involving the brachial plexus (BP). METHODS: We reviewed all available magnetic resonance (MR) imaging in patients diagnosed at our institution with NMC or NMC-DTF of the BP. We also performed a literature search of patients with NMC or NMC-DTF of the BP. RESULTS: In our clinical records, four patients with NMC of the BP were identified, and three developed NMC-DTF. All three patients had MR imaging evidence of circumferential encasement of the BP. In the literature, we identified 15 cases of NMC of the BP, of which 12 had identified NMC-DTF. Four published cases included MR images, and only two were of sufficient quality for review. The single provided image in both cases demonstrated a similar pattern of circumferential encasement of the BP by the NMC-DTF. One additional case report was published without MR images but described circumferential involvement in the surgical findings. One unpublished case of NMC-DTF of the BP from an international radiology meeting also had this circumferential pattern pattern on MRI. CONCLUSIONS: The MRI findings of circumferential nerve involvement in patients with NMC-DTF of the BP are similar to our previously reported data in patients with NMC-DTF of the sciatic nerve, providing further imaging-based support of a nerve-driven mechanism. Clinical implications are presented based on the proposed pathogenetic mechanism.

Injury and Biological Factors Impact Shoulder Function following Autogenous Grafting of Spinal Nerves for Pan-Brachial Plexus Reconstruction.

BACKGROUND: Shoulder function following spinal nerve grafting in pan-brachial plexus injuries(Pan-BPI) is not well described. The purpose of this study was twofold: 1)to evaluate shoulder abduction(ABD) and external rotation(ER) after grafting of viable spinal nerves to the suprascapular nerve(SSN), axillary nerve(AxN), or posterior division of the upper trunk(PDUT); and 2)to determine patient characteristics, injury severity/characteristics, and nerve graft factors that influenced outcomes. METHODS: 362 Pan-BPI reconstruction patients from a single institution were reviewed for those who underwent spinal nerve grafting for shoulder reanimation between 2001 and 2018. Patient demographics, injury severity scores(ISS), graft characteristics, strength, range of motion for shoulder ABD and ER, and patient-reported outcomes were recorded. Patients were divided into three groups based on the recovery of shoulder function: no return, ABD only, and ABD and ER. RESULTS: 110 patients underwent spinal nerve grafting, with 41 meeting inclusion criteria. 17(41.5%) had no return of shoulder function, 14(34.1%) had ABD alone, and 10(24.4%) had ABD and ER. Patients with recovery of both ABD and ER were significantly younger(18.6±5.56), had lower BMI(22.4±4.0), and lower ISS(10.5±6.24, p=0.003). Multivariable analysis found that with increasing age(OR:0.786, 95%CI:0.576,0.941) and ISS(OR:0.820, 95%CI:0.606-0.979), odds for return of ABD and ER significantly decreased. CONCLUSIONS: In Pan-BPI, 24.4% of patients demonstrated return of both ABD and ER following spinal nerve grafting to SSN and either AxN or PDUT. Age, BMI, and ISS were associated with poorer recovery of shoulder function. Careful patient selection and consideration of age, BMI, and ISS may improve outcomes of spinal nerve grafting for shoulder reanimation. LEVEL OF EVIDENCE: III.

Alfred Washington Adson: Perspectives on Intracranial Neurosurgery and the Responsibilities of the Neurosurgeon.

In a period when the budding field of neurosurgery was believed to have little promise, Dr Alfred Washington Adson founded and led the first neurosurgical department at Mayo Clinic. He was not without reservations-surgical intervention for neurological conditions was rarely pursued because of poor outcomes and high complication rates, and Dr Adson acknowledged his early concerns about the future of neurosurgery in his memoirs. However, his education, mentorship, his training, and his first neurosurgical cases helped to shape the impact he ultimately had on the field and his legacy as a neurosurgeon. Dr Adson trained with several renowned Mayo general surgeons, notably his mentor Dr Emil Beckman, whose desire for operative precision shaped Dr Adson's drive to develop his own skills as a surgeon. Two years into his residency, he became the youngest staff surgeon and was tasked with managing the neurosurgical cases at Mayo. The five neurosurgical cases overseen by Dr Adson in the next year illuminated the opportunity for neurosurgery to drastically improve the lives of patients. Dr Adson, given the option of continuing as either a general surgeon or a neurosurgeon, ultimately chose to pursue neurosurgery. This article seeks to provide a historical perspective on the neurosurgeon Dr Alfred Washington Adson using primary and secondary accounts from the Mayo archives, highlighting his contributions to the early understanding of intracranial pathology and how his early experiences as a trainee developed into a personal passion for self-improvement, education, and advocacy for health care in America.

Validation of the Root Analysis Score for C5 Viability in Patients With Pan-Brachial Plexus Injury.

PURPOSE: Pan-brachial plexus injury patients present a reconstructive challenge. The root analysis score, developed from parsimonious multivariable modeling of 311 pan-brachial plexus injury patients, determines the probability of having a viable C5 nerve based on four categories: positive C5 Tinel test, intact C5 nerve on computed tomography myelogram, lack of hemidiaphragmatic elevation, and absence of midcervical paraspinal fibrillations. METHODS: Root analysis scores were calculated for a separate cohort of patients with pan-brachial plexus injuries. Scores were validated by the presence or absence of a graftable C5 root, based on supraclavicular exploration and intraoperative electrophysiologic testing. Receiver operating characteristic curve, accuracy, and concordance statistic of the scores were calculated. Patients were divided into three root analysis score cohorts: less than 50 (low), 50-75 (average), and 75-100 points (high) based on dividing the score into quartiles and combining the lowest two. The probability, sensitivity, and specificity of each cohort having an available C5 nerve were based on the intraoperative assessment. RESULTS: Eighty patients (mean age, 33.1 years; 15 women and 65 men) were included. Thirty-one patients (39%) had a viable C5 nerve. The root analysis calculator had an overall accuracy of 82.5%, a receiver operating characteristic of 0.87, and a concordance statistic of 0.87, demonstrating high overall predictive value; 6.5% of patients with a score of less than 50 (94% sensitivity and 43% specificity), 16.1% of patients with a score of 50-75 (94% sensitivity and 67% specificity), and 77.4% of patients with a score of 75-100 (77% sensitivity and 90% specificity) had a graftable C5 nerve. CONCLUSIONS: The root analysis score demonstrated high accuracy and predictive power for a viable C5 nerve. In patients with a score of less than 50, the necessity of supraclavicular root exploration should balance patient factors, presentation timing, and concomitant injuries. TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnosis II.

Academic Promotions in Medicine: An Appraisal of Fairness.

OBJECTIVE: To investigate whether the process of conferring academic rank or components of the promotion packet contribute to the lack of parity in academic advancement for women and individuals underrepresented in medicine (URMs). PATIENTS AND METHODS: We retrospectively reviewed prospective promotion applications to the position of associate professor or professor at Mayo Clinic from January 2, 2015, through July 1, 2019. Individuals with doctorate degrees who applied for either rank were included in the study. Data collected included demographic characteristics, curriculum vitae at time of application, committee score sheets, and deferral and approval decisions. Deferral rates for women compared with men and for URMs compared with non-URMs was the primary outcome. RESULTS: Of 462 people who applied for associate professor, 10% (n=46) were deferred. Those promoted had worked longer at Mayo Clinic (median, 6 years vs 2 years; P=.01), had more mentees (median, 6 vs 4; P=.02), authored more publications (median [interquartile range (IQR)], 39 [32-52] vs 30 [24-35]; P<.001), and were more likely to be on a National Institutes of Health or institutional grant (P<.05). Of the 320 people who applied for professor, 8.8% (n=28) were deferred. Those promoted had authored more publications (median [IQR], 77 [60-99] vs 56 [44-66]; P<.001) and were less likely to hold an elected office to a professional society (22.6% vs 39.3%; P=.05). There was no significant association between deferral status and sex (P>.4) or race/ethnicity (P>.9) for either rank. CONCLUSION: The process for academic advancement for professorships does not contribute to the gap in promotion rates for women and URMs.

Abnormal Brachial Plexus Differentiation from Routine Magnetic Resonance Imaging: An AI-based Approach.

Automatic abnormality identification of brachial plexus (BP) from normal magnetic resonance imaging to localize and identify a neurologic injury in clinical practice (MRI) is still a novel topic in brachial plexopathy. This study developed and evaluated an approach to differentiate abnormal BP with artificial intelligence (AI) over three commonly used MRI sequences, i.e. T1, FLUID sensitive and post-gadolinium sequences. A BP dataset was collected by radiological experts and a semi-supervised artificial intelligence method was used to segment the BP (based on nnU-net). Hereafter, a radiomics method was utilized to extract 107 shape and texture features from these ROIs. From various machine learning methods, we selected six widely recognized classifiers for training our Brachial plexus (BP) models and assessing their efficacy. To optimize these models, we introduced a dynamic feature selection approach aimed at discarding redundant and less informative features. Our experimental findings demonstrated that, in the context of identifying abnormal BP cases, shape features displayed heightened sensitivity compared to texture features. Notably, both the Logistic classifier and Bagging classifier outperformed other methods in our study. These evaluations illuminated the exceptional performance of our model trained on FLUID-sensitive sequences, which notably exceeded the results of both T1 and post-gadolinium sequences. Crucially, our analysis highlighted that both its classification accuracies and AUC score (area under the curve of receiver operating characteristics) over FLUID-sensitive sequence exceeded 90%. This outcome served as a robust experimental validation, affirming the substantial potential and strong feasibility of integrating AI into clinical practice.

The 2-by-2 Inch "Key Window" in the Upper Extremity: An Anatomical Appraisal of the Accessibility and Proximity of the Major Nerves and Vessels.

BACKGROUND: The brachial plexus is a network of nerves located between the neck and axilla, which receives input from C5-T1. Distally, the nerves and blood vessels that supply the arm and forearm form a medial neurovascular bundle. The purpose of this study was to illustrate that a peripheral nerve dissection via a 2 × 2 inch window would allow for identification and isolation of the major nerves and blood vessels that supply the arm and forearm. METHODS: A right side formalin-fixed latex-injected cadaveric arm was transected at the proximal part of the axillary fold and included the scapular attachments. Step-by-step anatomical dissection was carried out and documented with three-dimensional digital imaging. RESULTS: A 2 × 2 inch window centered 2 inches distal to the axillary fold on the medial surface of the arm enabled access to the major neurovascular structures of the arm and forearm: the median nerve, ulnar nerve, medial antebrachial cutaneous nerve, radial nerve and triceps motor branches, musculocutaneous nerve and its biceps and brachialis branches and lateral antebrachial cutaneous nerve, basilic vein and brachial artery and vein, and profunda brachii artery. CONCLUSIONS: Our study demonstrates that the majority of the neurovascular supply in the arm and forearm can be accessed through a 2 × 2 inch area in the medial arm. Although this "key window" may not be entirely utilized in the operative setting, our comprehensive didactic description of peripheral nerve dissection in the cadaver laboratory can help in safer identification of complex anatomy encountered during surgical procedures.

Core outcomes in nerve surgery: development of a core outcome set for brachial plexus and upper extremity nerve injuries.

OBJECTIVE: When considering traumatic brachial plexus and upper extremity nerve injuries, iatrogenic nerve injuries, and nontraumatic nerve injuries, brachial plexus and upper extremity nerve injuries are commonly encountered in clinical practice. Despite this, data synthesis and comparison of available studies are difficult. This is at least in part due to the lack of standardization in reporting and a lack of a core outcome set (COS). Thus, there is a need for a COS for adult brachial plexus and upper extremity nerve injuries (COS-BPUE). The objective of this study was to develop a COS-BPUE using a modified Delphi approach. METHODS: A 5-stage approach was used to develop the COS-BPUE: 1) consortium development, 2) literature review to identify potential outcome measures, 3) Delphi survey to develop consensus on outcomes for inclusion, 4) Delphi survey to develop definitions, and 5) consensus meeting to finalize the COS and definitions. The study followed the Core Outcome Set-STAndards for Development (COS-STAD) recommendations. RESULTS: The Core Outcomes in Nerve Surgery (COINS) Consortium comprised 23 participants, all neurological surgeons, representing 13 countries. The final COS-BPUE consisted of 36 data points/outcomes covering demographic, diagnostic, patient-reported outcome, motor/sensory outcome, and complication domains. Appropriate instruments, methods of testing, and definitions were set. The consensus minimum duration of follow-up was 24 months, with the consensus optimal time points for assessment being preoperatively and 3, 6, 12, and 24 months postoperatively. CONCLUSIONS: The COINS Consortium developed a consensus COS and provided definitions, methods of implementation, and time points for assessment. The COS-BPUE should serve as a minimum set of data that should be collected in all future neurosurgical studies on adult brachial plexus and upper extremity nerve injuries. Incorporation of this COS should help improve consistency in reporting, data synthesis, and comparability, and should minimize outcome reporting bias.

The failed adult traumatic brachial plexus reconstruction.

Traumatic adult brachial plexus injuries typically cause immediate loss of upper limb function. Timely multidisciplinary treatment in specialized centres often results in a useful helper arm. Both the patient and the surgical team can benefit from an open discussion to set realistic expectations. Surgical reconstruction is customized for each patient, considering their injury factors and functional objectives. Optimizing pain control, adherence to procedure indications and using meticulous surgical techniques help minimize the risk of failing to meet the patient's goals. The need for potential alternative treatment(s) if the desired result is not achieved should be detailed before the initial reconstruction. This review discusses late treatment options, including tendon transfers, joint fusions, free functioning muscle transfers and prosthetics, for managing the failed primary reconstruction of the traumatic adult brachial plexus.

Global trends and outcomes of nerve transfers for treatment of adult brachial plexus injuries.

The presentation, management and outcomes of brachial plexus injuries are likely to be subject to regional differences across the globe. A comprehensive literature search was performed to identify relevant articles related to spinal accessory to suprascapular, intercostal to musculocutaneous, and ulnar and/or median nerve fascicle to biceps and/or brachialis motor branch nerve transfers for treatment of brachial plexus injuries. A total of 6007 individual brachial plexus injuries were described with a mean follow-up of 38 months. The specific indication for accessory to suprascapular and intercostal to musculocutaneous transfers were considerably different among regions (e.g. upper plexus vs. pan-plexal), while uniform for fascicular transfer for elbow flexion (e.g. upper plexus +/- C7). Similarly, functional recovery was highly variable for accessory to suprascapular and intercostal to musculocutaneous transfers, while British Medical Research Council grade ≥3 strength after fascicular transfer for elbow flexion was frequently obtained. Overall, differences in outcomes seem to be inherent to the specific transfer being utilized.Level of evidence: III.

Shaping Our Understanding of Malignant Peripheral Nerve Sheath Tumor: A Bibliometric Analysis of the 100 Most-Cited Articles.

BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are rare yet highly aggressive soft tissue sarcomas of mesenchymal origin, characterized by a heterogeneous pathological spectrum, limited therapeutic options, and high metastatic potential. METHODS: Here, the authors conducted a comprehensive bibliometric analysis of the 100 most-cited MPNST articles by utilizing Elsevier's Scopus to identify all relevant published and indexed articles referring to MPNST, thereby aiming to elucidate the pertinent research findings regarding the disease's pathophysiology and therapeutic advancements. Articles were classified as basic science or clinical and analyzed for various bibliometric parameters. RESULTS: The majority of articles (75%) focused on clinical aspects, reflecting the extensive clinicopathological characterization of MPNSTs. Notable studies investigated prognostic factors, histological and immunohistochemical features, and diagnostic modalities. The identification of loss of function mutations in the polycomb repressive complex 2 emerged as a pivotal role, as it opened avenues for potential targets for novel therapeutic interventions. Newer articles (published in or after 2006) demonstrated higher citation rates, suggesting evolving impact and collaboration. CONCLUSIONS: This bibliometric analysis showed how developments in the understanding of MPNST pathophysiology and the creation of novel therapeutic strategies occurred throughout time. Changes that have been noticed recently could portend future innovative therapeutic approaches.

Prevalence of carpal tunnel syndrome symptoms among neurosurgical spine surgeons.

Background: Neurosurgeons, particularly spine surgeons, have high exposure to vibrations via electric or pneumatic drills and repetitive motion. Although no data exist for the prevalence of carpal tunnel syndrome (CTS) among these surgeons, anecdotal evidence suggests the rate of symptoms is higher than in the general population. Methods: An anonymous questionnaire was developed to assess demographics, practice patterns, presence of CTS symptoms, and treatment (time off, bracing, medication, injections, surgery). The survey was sent via anonymous email link to members of the AANS/CNS Joint Section on Disorders of the Spine and Peripheral Nerve. Results: 101 members responded: 44 reported at least one symptom related to CTS (43.6%). There was no statistically significant relationship between overall or spine case volume, the number of cases performed annually/daily, and CTS symptoms. Respondents working in non-teaching settings were significantly more likely to have CTS symptoms than academic teaching institutions (50.0% v. 45.0%; p = 0.0112). Conclusions: Our survey demonstrated CTS to be more prevalent in spine neurosurgeons (43.6%) than in the general population (1-5%). The lack of significant association between most practice-based metrics and CTS symptoms may indicate that respondents have a minimum case volume that exceeds the amount of vibration exposure/repetitive motion to develop symptoms. The significantly increased prevalence of CTS among neurosurgeons at non-teaching institutions suggests that residents provide operative assistance offsetting the vibration exposure/repetitive motion by attendings. Further research may determine the root cause for the high prevalence of CTS in spine neurosurgeons and devise methods for reducing vibration exposure.

Parsonage-Turner Syndrome and Hereditary Brachial Plexus Neuropathy.

Parsonage-Turner syndrome and hereditary brachial plexus neuropathy (HBPN) present with indistinguishable attacks of rapid-onset severe shoulder and arm pain, disabling weakness, and early muscle atrophy. Their combined incidence ranges from 3 to 100 in 100,000 persons per year. Dominant mutations of SEPT9 are the only known mutations responsible for HBPN. Parsonage and Turner termed the disorder "brachial neuralgic amyotrophy," highlighting neuropathic pain and muscle atrophy. Modern electrodiagnostic and imaging testing assists the diagnosis in distinction from mimicking disorders. Shoulder and upper limb nerves outside the brachial plexus are commonly affected including the phrenic nerve where diaphragm ultrasound improves diagnosis. Magnetic resonance imaging can show multifocal T2 nerve and muscle hyperintensities with nerve hourglass swellings and constrictions identifiable also by ultrasound. An inflammatory immune component is suggested by nerve biopsies and associated infectious, immunization, trauma, surgery, and childbirth triggers. High-dose pulsed steroids assist initial pain control; however, weakness and subsequent pain are not clearly responsive to steroids and instead benefit from time, physical therapy, and non-narcotic pain medications. Recurrent attacks in HBPN are common and prophylactic steroids or intravenous immunoglobulin may reduce surgical- or childbirth-induced attacks. Rehabilitation focusing on restoring functional scapular mechanics, energy conservation, contracture prevention, and pain management are critical. Lifetime residual pain and weakness are rare with most making dramatic functional recovery. Tendon transfers can be used when recovery does not occur after 18 months. Early neurolysis and nerve grafts are controversial. This review provides an update including new diagnostic tools, new associations, and new interventions crossing multiple medical disciplines.

Clinicopathologic Findings in Patients With Paraneoplastic Neuropathies and Antibodies Strongly Associated With Cancer.

BACKGROUND AND OBJECTIVES: Pathologic descriptions of peripheral nerve involvement in paraneoplastic neuropathies are sparse, mostly from autopsies focusing on CNS and dorsal root ganglia tissues. Here, we describe the clinicopathologic features of peripheral nerve biopsies in patients with paraneoplastic neurologic syndromes to expand the currently limited knowledge. METHODS: Retrospective review of the Mayo Clinic electronic medical record from 1995 to 2022 for patients identified to have subacute onset neuropathy with paraneoplastic antibodies identified in our neuroimmunology laboratory having available nerve biopsies performed at the time of diagnosis. Patients with another cause of neuropathy not linked to their subacute onset were excluded. RESULTS: Nineteen patients met inclusion criteria: 4 with amphiphysin antibodies, 6 with antineuronal nuclear antibody (ANNA)-1 only, 3 with both ANNA-1 and collapsin response-mediator protein 5 (CRMP-5), 2 with ANNA-2, and 4 with CRMP-5 antibodies only. Fifteen biopsies had reduced the density of myelinated nerve fibers-4 with multifocality. Subperineurial edema was present in 17 biopsies. Prominent epineurial perivascular inflammation was present in 3 biopsies, all belonging to patients with a lumbosacral radiculoplexus neuropathy (LRPN) phenotype. DISCUSSION: Axonal loss, subperineurial edema, and an absence of prominent inflammation are the most common findings in nerve biopsies of patients with paraneoplastic antibodies strongly associated with cancer. The LRPN phenotype was the only subset with inflammatory collections. Paraneoplastic autoantibody testing should be considered in patients with subacute onset neuropathies, with or without interstitial inflammatory findings.

Exuberant circumferential fibroproliferative neuromas in lipomatosis of nerve: a unifying theory. Illustrative case.

BACKGROUND: Lipomatosis of nerve (LN) is a rare disorder characterized by the massive enlargement of peripheral nerves, frequently accompanied by generalized fibroadipose proliferation and skeletal overgrowth. OBSERVATIONS: The authors have been routinely following a 20-year-old male for lipomatosis of median nerve at the wrist noted shortly after birth. He had undergone resection of the lesion accompanied by sural nerve grafting at another institution. Clinically, although his neurological loss of function has been stable, he has had continued soft tissue growth. Serial magnetic resonance imaging has revealed persistent LN proximal to the repair sites with evidence of fatty proliferation in the sural grafts and continued LN and fatty proliferation distally. There has been a progressive circumferential pattern of fibrosis around the proximal and distal suture lines, which has a similar radiological pattern to desmoid type fibromatosis (a pattern recently described in neuromuscular choristoma [NMC] desmoid-type fibromatosis). LESSONS: Considering the similar reaction of nerve in both LN and NMC despite differing genetic cascades, the authors believe a unifying process occurs in both lesions. The pattern of circumferential fibroproliferation would be most consistent with neuron-mediated growth from unspecified trophic factors, supporting a previously reported a nerve-derived "inside-out mechanism." The clinical consequences of this unifying process are presented.