Needle electromyography does not meaningfully impact findings in MR-neurography/-myography.

INTRODUCTION: Magnetic resonance neurography (MRN) and myography (MRM) are emerging imaging methods for detecting diseases of the peripheral nerve system (PNS). Most patients with PNS diseases also undergo needle electromyography (EMG). This study examined whether EMG led to lesions that were detectable using MRN/MRM and whether these lesions could impair image interpretation. METHODS: Ten patients who underwent clinically indicated EMG were recruited. MRN/MRM was performed before and 2-6 h after EMG, and if achievable, 2-3 days later. T2 signal intensity (SI) of the tibialis anterior muscle (TA) was quantified, and sizes and SI of the new lesions were measured. Visual rating was performed independently by three neuroradiologists. RESULTS: T2 lesions at the site of needle insertion, defined as focal edema, were detectable in 9/10 patients. The mean edema size was 31.72 mm2 (SD = 14.42 mm2 ) at the first follow-up. Susceptibility-weighted imaging lesions, defined as (micro) hematomas were detected in 5/10 patients (mean size, 23.85 mm2 [SD = 12.59 mm2 ]). General muscle SI of the TA did not differ between pre- and post-EMG examinations. Lesions size was relatively small, and the readers described image interpretation as not impaired by these lesions. DISCUSSION: This study showed that focal edema and hematomas frequently occurred after needle EMG and could be observed using MRN/MRM. As general muscle SI was not affected and image interpretation was not impaired, we concluded that needle EMG did not interfere with MRN/MRM.

Whole-body magnetic resonance neurography in patients with chronic inflammatory demyelinating polyneuropathy.

INTRODUCTION/AIMS: Whole-body magnetic resonance neurography (MRN) is an imaging modality that shows peripheral nerve signal change in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). We aimed to explore the diagnostic potential of whole-body MRN and its potential as a monitoring tool after immunotherapy in treatment-naïve CIDP patients. METHODS: Whole-body MRN using coronal 3-dimensional short tau inversion recovery (STIR) sampling perfection with application-optimized contrasts by using different flip angle evolution (SPACE) techniques was performed in patients being investigated for CIDP and in healthy controls. Baseline clinical neuropathy scales and electrophysiologic parameters were collected, and MRN findings were compared before and after CIDP treatment. RESULTS: We found highly concordant symmetrical thickening and increased T2 signal intensities in the brachial/lumbosacral plexus, femoral, or sciatic nerves in five of the eight patients with a final diagnosis of CIDP and none of the healthy controls. There were no treatment-related imaging changes in five patients with CIDP who completed a follow-up study. Diffuse, symmetrical thickening, and increased T2 signal in root, plexus, and peripheral nerves were found in two patients ultimately excluded due to a diagnosis of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes (POEMS) syndrome in addition to signal changes in the muscles, bony lesions, organomegaly, and lymphadenopathy. DISCUSSION: Whole-body MRN imaging shows promise in detecting abnormalities in proximal nerve segments in patients with CIDP. Future studies evaluating the role of MRN in assessing treatment response should consider follow-up scans after treatment durations of more than 4 months.

Microstructural changes of peripheral nerves in early multiple sclerosis: A prospective magnetic resonance neurography study.

BACKGROUND AND PURPOSE: Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system (CNS). However, there is increasing evidence of peripheral nerve involvement. This study aims to characterize the pattern of peripheral nerve changes in patients with newly diagnosed MS using quantitative magnetic resonance (MR) neurography. METHODS: In this prospective study, 25 patients first diagnosed with MS according to the revised McDonald criteria (16 female, mean age = 32.8 ± 10.6 years) and 14 healthy controls were examined with high-resolution 3-T MR neurography of the sciatic nerve using diffusion kurtosis imaging (DKI; 20 diffusional directions, b = 0, 700, 1200 s/mm2 ) and magnetization transfer imaging (MTI). In total, 15 quantitative MR biomarkers were analyzed and correlated with clinical symptoms, intrathecal immunoglobulin synthesis, electrophysiology, and lesion load on brain and spine MR imaging. RESULTS: Patients showed decreased fractional anisotropy (mean = 0.51 ± 0.04 vs. 0.56 ± 0.03, p < 0.001), extra-axonal tortuosity (mean = 2.32 ± 0.17 vs. 2.49 ± 0.17, p = 0.008), and radial kurtosis (mean = 1.40 ± 0.23 vs. 1.62 ± 0.23, p = 0.014) and higher radial diffusivity (mean = 1.09 ∙ 10-3 mm2 /s ± 0.16 vs. 0.98 ± 0.11 ∙ 10-3 mm2 /s, p = 0.036) than controls. Groups did not differ in MTI. No significant association was found between MR neurography markers and clinical/laboratory parameters or CNS lesion load. CONCLUSIONS: This study provides further evidence of peripheral nerve involvement in MS already at initial diagnosis. The characteristic pattern of DKI parameters indicates predominant demyelination and suggests a primary coaffection of the peripheral nervous system in MS. This first human study using DKI for peripheral nerves shows its potential and clinical feasibility in providing novel biomarkers.

Assessment of traumatic mandibular nerve using MR neurography sequence: a preliminary study.

BACKGROUND: Iatrogenic mandibular nerve damage resulting from oral surgeries and dental procedures is painful and a formidable challenge for patients and oral surgeons alike, mainly because the absence of objective and quantitative methods for diagnosing nerve damage renders treatment and compensation ambiguous while often leading to medico-legal disputes. The aim of this study was to examine discriminating factors of traumatic mandibular nerve within a specific magnetic resonance imaging (MRI) protocol and to suggest tangible diagnostic criteria for peripheral trigeminal nerve injury. METHODS: Twenty-six patients with ipsilateral mandibular nerve trauma underwent T2 Flex water, 3D short tau inversion recovery (STIR), and diffusion-weighted imaging (DWI) acquired by periodically rotating overlapping parallel lines with enhanced reconstruction (PROPELLER) pulse sequences; 26 injured nerves were thus compared with contra-lateral healthy nerves at anatomically corresponding sites. T2 Flex apparent signal to noise ratio (FSNR), T2 Flex apparent nerve-muscle contrast to noise ratio (FNMCNR) 3D STIR apparent signal to noise ratio (SSNR), 3D STIR apparent nerve-muscle contrast to noise ratio (SNMCNR), apparent diffusion coefficient (ADC) and area of cross-sectional nerve (Area) were evaluated. RESULTS: Mixed model analysis revealed FSNR and FNMCNR to be the dual discriminators for traumatized mandibular nerve (p < 0.05). Diagnostic performance of both parameters was also determined with area under the receiver operating characteristic curve (AUC for FSNR = 0.712; 95% confidence interval [CI]: 0.5660, 0.8571 / AUC for FNMCNR = 0.7056; 95% confidence interval [CI]: 1.011, 1.112). CONCLUSIONS: An increase in FSNR and FNMCNR within our MRI sequence seems to be accurate indicators of the presence of traumatic nerve. This prospective study may serve as a foundation for sophisticated model diagnosing trigeminal nerve trauma within large patient cohorts.

MR Neurography and Quantitative Muscle MRI of Parsonage Turner Syndrome Involving the Long Thoracic Nerve.

BACKGROUND: Parsonage-Turner syndrome (PTS) is characterized by severe, acute upper extremity pain and subsequent paresis and most commonly involves the long thoracic nerve (LTN). While MR neurography (MRN) can detect LTN hourglass-like constrictions (HGCs), quantitative muscle MRI (qMRI) can quantify serratus anterior muscle (SAM) neurogenic changes. PURPOSE/HYPOTHESIS: 1) To characterize qMRI findings in LTN-involved PTS. 2) To investigate associations between qMRI and clinical assessments of HGCs/electromyography (EMG). STUDY TYPE: Prospective. POPULATION: 30 PTS subjects (25 M/5 F, mean/range age = 39/15-67 years) with LTN involvement who underwent bilateral chest wall qMRI and unilateral brachial plexus MRN. FIELD STRENGTH/SEQUENCES: 3.0 Tesla/multiecho spin-echo T2-mapping, diffusion-weighted echo-planar-imaging, multiecho gradient echo. ASSESSMENT: qMRI was performed to obtain T2, muscle diameter fat fraction (FF), and cross-sectional area of the SAM. Clinical reports of MRN and EMG were obtained; from MRN, the number of HGCs; from EMG, SAM measurements of motor unit recruitment levels, fibrillations, and positive sharp waves. qMRI/MRN were performed within 90 days of EMG. EMG was performed on average 185 days from symptom onset (all ≥2 weeks from symptom onset) and 5 days preceding MRI. STATISTICAL TESTS: Paired t-tests were used to compare qMRI measures in the affected SAM versus the contralateral, unaffected side (P < 0.05 deemed statistically significant). Kendall's tau was used to determine associations between qMRI against HGCs and EMG. RESULTS: Relative to the unaffected SAM, the affected SAM had increased T2 (50.42 ± 6.62 vs. 39.09 ± 4.23 msec) and FF (8.45 ± 9.69 vs. 4.03% ± 1.97%), and decreased muscle diameter (74.26 ± 21.54 vs. 88.73 ± 17.61 µm) and cross-sectional area (9.21 ± 3.75 vs. 16.77 ± 6.40 mm2 ). There were weak to negligible associations (tau = -0.229 to <0.001, P = 0.054-1.00) between individual qMRI biomarkers and clinical assessments of HGCs and EMG. DATA CONCLUSION: qMRI changes in the SAM were observed in subjects with PTS involving the LTN. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY: Stage 1.

Magnetic resonance neurography techniques in the pediatric population.

The use of magnetic resonance imaging (MRI) in the evaluation of the central extracranial nervous system, namely the brachial and lumbosacral plexuses, is well established and has been performed for many years. Only recently after numerous advances in MRI, has image quality been sufficient to properly visualize small structures, such as nerves in the extremities. Despite the advances, peripheral MR Neurography remains a complex and difficult examination to perform, especially in the pediatric patient population, in which the risk for motion artifact and compliance is always of concern. Thus, technical aspects of the MR imaging protocol must be flexible but robust, to balance image quality with scan time, in a patient population of varying sizes. An additional important step for reliably performing a successful MR Neurography examination is the non-technical pre-imaging preparation, which includes patient/family education and open communication with referring teams. This paper will discuss in detail the individual technical and non-technical/operational aspects of peripheral MR Neurography, to help guide in building a successful program in the pediatric population.

Parsonage-Turner syndrome following monkeypox infection and vaccination.

Beginning in May 2022, monkeypox infection and vaccination rates dramatically increased due to a worldwide outbreak. This case highlights magnetic resonance (MR) neurography findings in an individual who developed Parsonage-Turner syndrome (PTS) 5 days after monkeypox symptom onset and 12 days after receiving the JYNNEOS vaccination. MR neurography of the patient's left suprascapular nerve demonstrated intrinsic hourglass-like constrictions, a characteristic finding of peripheral nerves involved in PTS. Other viral infections and vaccinations are well-documented triggers of PTS, an underrecognized peripheral neuropathy that is thought to be immune-mediated and results in severe upper extremity pain and weakness. The close temporal relationship between monkeypox infection and vaccination, and PTS onset, in this case, suggests a causal relationship and marks the first known report of peripheral neuropathy associated with monkeypox.

Can MR neurography of the common peroneal nerve predict a residual motor deficit in patients with foot drop?

OBJECTIVE: To determine if MR neurography of the common peroneal nerve (CPN) predicts a residual motor deficit at 12-month clinical follow-up in patients presenting with foot drop. MATERIALS AND METHODS: A retrospective search for MR neurography cases evaluating the CPN at the knee was performed. Patients were included if they had electrodiagnostic testing (EDX) within 3 months of imaging, ankle and/or forefoot dorsiflexion weakness at presentation, and at least 12-month follow-up. Two radiologists individually evaluated nerve size (enlarged/normal), nerve signal (T2 hyperintense/normal), muscle signal (T2 hyperintense/normal), muscle bulk (normal/Goutallier 1/Goutallier > 1), and nerve and muscle enhancement. Discrepancies were resolved via consensus review. Multivariable logistical regression was used to evaluate for association between each imaging finding and a residual motor deficit at 12-month follow-up. RESULTS: Twenty-three 3 T MRIs in 22 patients (1 bilateral, mean age 52 years, 16 male) met inclusion criteria. Eighteen cases demonstrated common peroneal neuropathy on EDX, and median duration of symptoms was 5 months. Six cases demonstrated a residual motor deficit at 12-month follow-up. Fourteen cases underwent CPN decompression (1 bilateral) within 1 year of presentation. Three cases demonstrated Goutallier > 1 anterior compartment muscle bulk. Multivariable logistical regression did not show a statistically significant association between any of the imaging findings and a residual motor deficit at 12-month follow-up. CONCLUSION: MR neurography did not predict a residual motor deficit at 12-month follow-up in patients presenting with foot drop, though few patients demonstrated muscle atrophy in this study.

Diagnostic performance of deep learning-based reconstruction algorithm in 3D MR neurography.

OBJECTIVE: The study aims to evaluate the diagnostic performance of deep learning-based reconstruction method (DLRecon) in 3D MR neurography for assessment of the brachial and lumbosacral plexus. MATERIALS AND METHODS: Thirty-five exams (18 brachial and 17 lumbosacral plexus) of 34 patients undergoing routine clinical MR neurography at 1.5 T were retrospectively included (mean age: 49 ± 12 years, 15 female). Coronal 3D T2-weighted short tau inversion recovery fast spin echo with variable flip angle sequences covering plexial nerves on both sides were obtained as part of the standard protocol. In addition to standard-of-care (SOC) reconstruction, k-space was reconstructed with a 3D DLRecon algorithm. Two blinded readers evaluated images for image quality and diagnostic confidence in assessing nerves, muscles, and pathology using a 4-point scale. Additionally, signal-to-noise ratio (SNR) and contrast-to-noise ratios (CNR) between nerve, muscle, and fat were measured. For comparison of visual scoring result non-parametric paired sample Wilcoxon signed-rank testing and for quantitative analysis paired sample Student's t-testing was performed. RESULTS: DLRecon scored significantly higher than SOC in all categories of image quality (p < 0.05) and diagnostic confidence (p < 0.05), including conspicuity of nerve branches and pathology. With regard to artifacts there was no significant difference between the reconstruction methods. Quantitatively, DLRecon achieved significantly higher CNR and SNR than SOC (p < 0.05). CONCLUSION: DLRecon enhanced overall image quality, leading to improved conspicuity of nerve branches and pathology, and allowing for increased diagnostic confidence in evaluation of the brachial and lumbosacral plexus.

MR neurography showed brachial plexus abnormalities in syringomyelia with shoulder Charcot arthropathy: a case report.

Charcot shoulder is occasionally seen with syringomyelia. To the best of our knowledge this is the first report of brachial plexus abnormalities detected by magnetic resonance(MR) neurography in these patients. MR neurography is useful to evaluate small nerves and their disorders, and may contribute to the early diagnosis and differential diagnoses of such patients.

Imaging of neuralgic amyotrophy in the acute phase.

INTRODUCTION/AIMS: Hourglass-like constrictions (HGCs) occur in neuralgic amyotrophy (NA), but the earliest time at which they can be recognized by imaging is poorly understood. We aimed to determine the prevalence of abnormal imaging findings in the acute phase of NA. METHODS: Magnetic resonance neurography (MRN) and high-resolution ultrasound (US) examinations were performed at five sites. The investigation included 39 patients with acute NA who underwent imaging within 31 days of symptom onset. Correlation between imaging and electromyography (EMG) findings was measured. RESULTS: US was performed in 29 patients and MRN in 23; 16 patients underwent US only, 10 MRN only, and 13 had both. US and MRN showed nerve abnormalities within 1 mo from NA onset in 90% of patients. HGCs were found in 74% (29/39) of the patients: 4 within 1 wk, 8 within 2 wk, 5 within 3 wk, and 12 within 4 wk. The earliest HGC on US was found within 12 h, and on MRN within 3 days from symptom onset. MRN demonstrated a denervation edema pattern of affected muscles in 91% of the patients. The shortest time to observe an edema pattern on MRN was 8 days. EMG was performed in 30 patients and revealed fibrillation potentials in affected muscles in 22 (73%). A denervation edema pattern on MRN was significantly associated with the presence of HGCs both on MRN and US, and with fibrillation potentials on EMG. DISCUSSION: In the early phase of NA, US and MRN are useful diagnostic techniques for demonstrating nerve abnormalities.

3-T MR neurography of lumbo-sacral plexus in hereditary transthyretin-related amyloidosis with polyneuropathy.

OBJECTIVES: Our aim was to evaluate the ability of magnetic resonance neurography (MRN) of the lumbo-sacral plexus (LSP) to distinguish patients with hereditary transthyretin-related amyloidosis with polyneuropathy (ATTRv-PN) from asymptomatic variant carriers (AVC) and healthy controls and to assess its prognostic value. METHODS: Three-Tesla MRN was performed in 25 consecutive ATTRv-PN patients, 18 AVC, and 10 controls including T2-w DIXON and DWI MR sequences. Two blinded readers independently assessed LSP root diameter and intraneural signal on the MRN images of each subject. MRN findings were compared between groups and correlated with clinical impairment scored on the Neuropathy Impairment Score (NIS) and the modified Polyneuropathy Disability score (mPND). RESULTS: The agreement between readers on MRN images was excellent (Cohen's kappa = 0.82). LSP root enlargement was significantly more frequent in ATTRv-PN patients compared to AVC (ratio = 4.38, p = 0.038). Increased LSP root intraneural signal on T2-w images was significantly more frequent in ATTRv-PN patients compared to AVC (ratio = 3.4, p = 0.016). In contrast, there were no MRN abnormalities in controls. In ATTRv-PN patients, LSP root enlargement was associated with higher mPND scores (p = 0.03) and increased intraneural signal on T2-w images was associated with significantly higher NIS and mPND scores (p = 0.004 and 0.02, respectively). CONCLUSIONS: MRN of the LSP can help differentiate ATTRv-PN patients from AVC. LSP root enlargement and increased intraneural signal are significantly associated with clinical impairment, suggesting potential implications for patient care. KEY POINTS: • ATTRv-PN patients showed abnormal LSP changes on MRN. • MRN of the LSP can help to differentiate ATTRv-PN patients from AVC and healthy controls. • LSP root enlargement and increased intraneural signal were significantly associated with clinical impairment in ATTRv-PN patients.

Spontaneous ischemic neuropathy of the sciatic nerve due to arterial occlusion - a rare cause of acute neuropathy not to be missed, a report of two cases.

BACKGROUND: Ischemic neuropathy of the sciatic nerve without preceding vascular surgical procedures is a rare condition and may be due to arterial occlusion in one limb. CASE PRESENTATIONS: We present two cases with acute onset of pain and sensory symptoms such as pins and needles and numbness in the foot with no or mild motor symptoms. In the neurological work-up, electrophysiological signs of axonal neuropathy of both peroneal and tibial nerves were demonstrated and T2 hyperintensity was seen in the distal sciatic nerves on MR neurography as well as signs indicating arterial thrombosis in the corresponding vessels. Recanalization was obtained in both patients angiographically with significant improvement in one patient. CONCLUSIONS: Spontaneous arterial occlusion of major or peripheral arteries is a rare but important cause of acute onset of single or multiple axonal mononeuropathies of one extremity. Recognition of this infrequent cause is essential since it requires immediate and specific therapeutic options.

Piriformis syndrome: muscle thickness or volume does not correlate with response to CT-guided injection.

OBJECTIVE: To determine whether size of the piriformis muscle, as characterized by either the coronal width or a segmented volume, correlates with outcomes after CT-guided injections. MATERIALS AND METHODS: A consecutive series of 81 patients with piriformis syndrome received CT-guided injections of the sciatic nerve and piriformis muscle. Volume and thickness measurements of the piriformis were taken from T1W and T2W pre-injection images by two readers. A logistic regression was used to test volume and size effect on first injection response. A cox proportional hazards model was used to evaluate pain-free survival. Identical analyses were performed to test the effects of muscle mass abnormality, nerve abnormality, body mass index, and presence of a split sciatic nerve. RESULTS: There were 15/94 negative responses, 31/94 possible positive responses, and 48/94 positive responses to CT-guided injection. The average pain-free survival time was 38.91 ± 64.43 days. There was no significant correlation of first injection responses with muscle thickness or volume. There was no significant correlation in pain-free survival for muscle thickness or volume. There was no significant correlation in first injection response or pain-free survival with body mass index, muscle abnormalities, nerve abnormalities, or split sciatic nerves. The intraclass correlation was excellent between the two readers for both muscle volume (0.95-0.98) and thickness (0.92-0.97). CONCLUSION: Piriformis muscle volume or thickness did not significantly correlate with post-injection outcome (first injection response and pain-free survival). Thus, if the patient has clinical symptoms of piriformis syndrome, the size of muscle should not determine whether injection is advisable.

Prospective pre-operative 3-T MR neurography peripheral nerve mapping of upper extremity amputations implanted with FAST-LIFE electrode interfaces of robotic hands: technical report.

BACKGROUND AND PURPOSE: Fascicular targeting of longitudinal intrafascicular electrode (FAST-LIFE) interface enables hand dexterity with exogenous electrical microstimulation for sensory restoration, custom neural recording hardware, and deep learning-based artificial intelligence for motor intent decoding. The purpose of this technical report from a prospective pilot study was to illustrate magnetic resonance neurography (MRN) mapping of hand and nerve anatomy in amputees and incremental value of MRN over electrophysiology findings in pre-surgical planning of FAST-LIFE interface (robotic hand) patients. MATERIALS AND METHODS: After obtaining informed consent, patients with upper extremity amputations underwent pre-operative 3-T MRN, X-rays, and electrophysiology. MRN findings were correlated with electrophysiology reports. Descriptive statistics were performed. RESULTS: Five patients of ages 21-59 years exhibited 3/5 partial hand amputations, and 2/5 transradial amputations on X-rays. The median and ulnar nerve end bulb neuromas measured 10.1 ± 3.04 mm (range: 5.5-14 mm, median: 10.5 mm) and 10.9 ± 7.64 mm (2-22 mm, 9.75 mm), respectively. The ADC of median and ulnar nerves were increased at 1.64 ± 0.1 × 10-3 mm2/s (range: 1.5-1.8, median: 1.64 × 10-3 mm2/s) and 1.70 ± 0.17 × 10-3 mm2/s (1.49-1.98 × 10-3 mm2/s, 1.65 × 10-3 mm2/s), respectively. Other identified lesions were neuromas of superficial branch of the radial nerve and anterior interosseous nerve. On electrophysiology, 2/5 reports were unremarkable, 2/5 showed mixed motor-sensory neuropathies of median and ulnar nerves along with radial sensory neuropathy, and 1/5 showed sensory neuropathy of lateral cutaneous nerve of the forearm. All patients regained naturalistic sensations and motor control of digits. CONCLUSION: 3-T MRN allows excellent demonstration of forearm and hand nerve anatomy, altered diffusion characteristics, and their neuromas despite unremarkable electrophysiology for pre-surgical planning of the FAST-LIFE (robotic hand) interfaces.

Neuropathy Score Reporting and Data System (NS-RADS): MRI Reporting Guideline of Peripheral Neuropathy Explained and Reviewed.

A standardized guideline and scoring system should be used for the MR imaging diagnosis of peripheral neuropathy. The MR imaging-based Neuropathy Score Reporting and Data System (NS-RADS) is a newly devised classification system (in press in AJR) that can be used to communicate both type and severity of peripheral neuropathy in the light of clinical history and examination findings. The spectrum of neuropathic conditions and peripheral nerve disorders covered in this system includes nerve injury, entrapment, neoplasm, diffuse neuropathy, and post-interventional states. This classification system also describes the temporal MR imaging appearances of regional muscle denervation changes. This review article is based on the multicenter validation study pre-published in American journal of Roentgenology and discusses technical considerations of optimal MR imaging for peripheral nerve evaluation and discusses the NS-RADS classification and its severity scales with illustration of conditions that fall under each classification. The readers can gain knowledge of the NS-RADS classification system and learn to apply it in their practices for improved inter-disciplinary communications and timely patient management.

Comparison of electrodiagnosis, neurosonography and MR neurography in localization of ulnar neuropathy at the elbow.

INTRODUCTION: In patients with ulnar neuropathy at the elbow (UNE) the precise determination of the site of lesion is important for subsequent differential diagnostic considerations and therapeutic management. Due to a paucity of comparable data, to better define the role of different diagnostic tests, we performed the first prospective study comparing the diagnostic accuracy of short segment nerve stimulation, nerve ultrasonography, MR neurography (MRN), and diffusion tensor imaging (DTI) in patients with UNE. METHODS: UNE was clinically diagnosed in 17 patients with 18 affected elbows. For all 18 affected elbows in patients and 20 elbows in 10 healthy volunteers, measurements of all different diagnostic tests were performed at six anatomical positions across the elbow with measuring points from distal (D4) to proximal (P6) in relation to the medial epicondyle (P0). Additional qualitative assessment regarding structural changes of surrounding nerve anatomy was conducted. RESULTS: The difference between affected arms of patients and healthy control arms were most frequently the largest at measure intervals D2 to P0 and P0 to P2 for electrophysiological testing, or measure points P0 and P2 for all other devices, respectively. At both levels P0 and at P2, T2 contrast-to-noise ratio (CNR) of MRN and mean diffusivity (MD) of DTI-based MRN showed best accuracies. DISCUSSION: This study revealed differences in diagnostic performance of tests concerning a specific location of UNE, with better results for T2 contrast to noise ratio (CNR) in MRN and mean diffusivity of DTI-based MRN. Additional testing with MRN and nerve ultrasonography is recommended to uncover anatomical changes.

Diffusion tensor imaging MR neurography in patients with acute or chronic plexopathy.

The nerve plexus is susceptible to various pathological processes. In addition to clinical and electrophysiological findings, magnetic resonance neurography (MRN) may contribute to characterize plexus involvement. Diffusion tensor imaging (DTI) was reported feasible for the nerve plexuses imaging but its value in the clinical practice remains uncertain. From 2014 to 2020, we routinely performed MRN including DTI at 3T in patients with acute or chronic plexopathy. DTI images were co-registered with conventional MRN images. MRN images including DTI were reviewed by consensus by two neuroradiologists and one neurologist. They retrospectively identified cases for whom the use of DTI had a potential impact on the diagnostic workup, seven of these clinical cases are presented here. Compared to conventional MRN, the added value of DTI consisted in: (i) improved detection of signal/morphological abnormalities of the plexus (due to removal of background structures, multiplanar reformatted views and large field of view), (ii) additional information regarding the microarchitecture of nerve fibers provided by DTI metrics, (iii) potential alternative for the use of gadolinium. This case series supports the implementation of DTI in MRN protocols.

Novel imaging techniques using 18 F-florbetapir PET/MRI can guide fascicular nerve biopsy in amyloid multiple mononeuropathy.

BACKGROUND: Multiple mononeuropathy is a rare presentation of primary (AL) amyloidosis and nerve biopsy is usually needed for diagnosis. Conventional imaging is useful to identify proximal nerve involvement but may be inadequate. We report a patient with multiple mononeuropathy whose presentation was suggestive of AL amyloid neuropathy and in whom repeated tissue biopsies were negative for amyloid (including two sensory nerves and one muscle). METHODS: The patient underwent magnetic resonance imaging (MRI) and whole body 18 F-florbetapir positron emission tomography (PET)/MRI. RESULTS: Whole body 18 F-florbetapir PET/MRI revealed abnormal low-level florbetapir uptake in the right proximal tibial and peroneal nerves, which provided a target for a sciatic bifurcation fascicular nerve biopsy that was diagnostic of AL amyloidosis. CONCLUSIONS: 18 F-florbetapir PET/MRI imaging is a promising diagnostic tool for patients with suspected peripheral nerve amyloidosis (including multiple mononeuropathy) in whom conventional imaging and nerve and muscle biopsies miss the pathology.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

BACKGROUND: Hereditary motor and sensory neuropathy, also referred to as Charcot-Marie-Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hereditary neuromuscular disorders. However, such rare genetic coincidences produce a severe phenotype and have been reported in terms of "double trouble" overlapping syndrome. Waardenburg syndrome (WS) is the most common form of a hereditary syndromic deafness. It is primarily characterized by pigmentation anomalies and classified into four major phenotypes. A mutation in the SRY sex determining region Y-box 10 (SOX10) gene causes WS type 2 or 4 and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease. We describe a 11-year-old boy with extreme hypertrophic neuropathy because of a combination of CMT1A and WS type 2. This is the first published case on the co-occurrence of CMT1A and WS type 2. CASE PRESENTATION: The 11-year-old boy presented with motor developmental delay and a deterioration in unstable walking at 6 years of age. In addition, he had congenital hearing loss and heterochromia iridis. The neurological examination revealed weakness in the distal limbs with pes cavus. He was diagnosed with CMT1A by the fluorescence in situ hybridization method. His paternal pedigree had a history of CMT1A. However, no family member had congenital hearing loss. His clinical manifestation was apparently severe than those of his relatives with CMT1A. In addition, a whole-body magnetic resonance neurography revealed an extreme enlargement of his systemic cranial and spinal nerves. Subsequently, a genetic analysis revealed a heterozygous frameshift mutation c.876delT (p.F292Lfs*19) in the SOX10 gene. He was eventually diagnosed with WS type 2. CONCLUSIONS: We described a patient with a genetically confirmed overlapping diagnoses of CMT1A and WS type 2. The double trouble with the genes created a significant impact on the peripheral nerves system. Severe phenotype in the proband can be attributed to the cumulative effect of mutations in both PMP22 and SOX10 genes, responsible for demyelinating neuropathy.