High-resolution Magnetic Resonance Neurography Research Articles

Possibilities of magnetic resonance imaging in visualizing the pudendal nerve in normal and pathological conditions

Until recently, imaging of peripheral nerves was limited from a technical point of view, as there was no established “gold standard” study protocol for the purpose of qualitative visualization of nerve trunks in normal and pathological conditions. With technical advances in magnetic resonance imaging and the advent of specialized high-resolution magnetic resonance neurography, it has become possible to visualize peripheral nerves of varying diameters. A literature search in the Pubmed, Medline, EMBASE, Cochrane Library, and eLibrary databases demonstrated the presence of several studies examining the capabilities of magnetic resonance imaging in visualizing the pudendal nerve in normal and pathological conditions. It must be emphasized that the results of these studies are consistent and largely complement each other. A generalization of the available data on the capabilities of magnetic resonance neurography of the pudendal nerve was the impetus for writing this literature review. Magnetic resonance neurography is a tissue-specific imaging method optimized for assessing the condition of peripheral nerves, including changes in the morphology of their bundle structure, signal, the diameter and length of nerve trunks, which can be caused by both anatomical features and pathological processes. Three-dimensional (3D) imaging is critical for studying the topography of peripheral nerves, identifying areas of compression or traumatic injury, and for preoperative planning. Magnetic resonance imaging in certain modes and sections allows to clearly visualize the pudendal nerve along almost its entire length, determine the nature of its branching and the features of its topographic and anatomical location. The anatomical characteristics of the pudendal nerve and its pathological changes obtained using magnetic resonance neurography can be used in everyday clinical practice by urologists, obstetricians-gynecologists and neurosurgeons for planning surgical interventions.

A diminished sciatic nerve structural integrity is associated with distinct peripheral sensory phenotypes in individuals with type 2 diabetes

Aims/hypothesisQuantitative sensory testing (QST) allows the identification of individuals with rapid progression of diabetic sensorimotor polyneuropathy (DSPN) based on certain sensory phenotypes. Hence, the aim of this study was to investigate the relationship of these phenotypes with the structural integrity of the sciatic nerve among individuals with type 2 diabetes.MethodsSeventy-six individuals with type 2 diabetes took part in this cross-sectional study and underwent QST of the right foot and high-resolution magnetic resonance neurography including diffusion tensor imaging of the right distal sciatic nerve to determine the sciatic nerve fractional anisotropy (FA) and cross-sectional area (CSA), both of which serve as markers of structural integrity of peripheral nerves. Participants were then assigned to four sensory phenotypes (participants with type 2 diabetes and healthy sensory profile [HSP], thermal hyperalgesia [TH], mechanical hyperalgesia [MH], sensory loss [SL]) by a standardised sorting algorithm based on QST.ResultsObjective neurological deficits showed a gradual increase across HSP, TH, MH and SL groups, being higher in MH compared with HSP and in SL compared with HSP and TH. The number of participants categorised as HSP, TH, MH and SL was 16, 24, 17 and 19, respectively. There was a gradual decrease of the sciatic nerve’s FA (HSP 0.444, TH 0.437, MH 0.395, SL 0.382; p=0.005) and increase of CSA (HSP 21.7, TH 21.5, MH 25.9, SL 25.8 mm2; p=0.011) across the four phenotypes. Further, MH and SL were associated with a lower sciatic FA (MH unstandardised regression coefficient [B]=−0.048 [95% CI −0.091, −0.006], p=0.027; SL B=−0.062 [95% CI −0.103, −0.020], p=0.004) and CSA (MH β=4.3 [95% CI 0.5, 8.0], p=0.028; SL B=4.0 [95% CI 0.4, 7.7], p=0.032) in a multivariable regression analysis. The sciatic FA correlated negatively with the sciatic CSA (r=−0.35, p=0.002) and markers of microvascular damage (high-sensitivity troponin T, urine albumin/creatinine ratio).Conclusions/interpretationThe most severe sensory phenotypes of DSPN (MH and SL) showed diminishing sciatic nerve structural integrity indexed by lower FA, likely representing progressive axonal loss, as well as increasing CSA of the sciatic nerve, which cannot be detected in individuals with TH. Individuals with type 2 diabetes may experience a predefined cascade of nerve fibre damage in the course of the disease, from healthy to TH, to MH and finally SL, while structural changes in the proximal nerve seem to precede the sensory loss of peripheral nerves and indicate potential targets for the prevention of end-stage DSPN.Trial registrationClinicalTrials.gov NCT03022721Graphical

The role of high-resolution ultrasound and MRI in the evaluation of peripheral nerves in the lower extremity.

Lower extremity peripheral neuropathy is a commonly encountered neurologic disorder, which can lead to chronic pain, functional disability, and decreased quality of life for a patient. As diagnostic imaging modalities have improved, imaging has started to play an integral role in the detection and characterization of peripheral nerve abnormalities by non-invasively and accurately identifying abnormal nerves as well as potential causes of neuropathy, which ultimately leads to precise and timely treatment. Ultrasound, which has high spatial resolution and can quickly and comfortably characterize peripheral nerves in real time along with associated denervation muscle atrophy, and magnetic resonance neurography, which provides excellent contrast resolution between nerves and other tissues and between pathologic and normal segments of peripheral nerves, in addition to assessing reversible and irreversible muscle denervation changes, are the two mainstay imaging modalities used in peripheral nerve assessment. These two modalities are complimentary, and one may be more useful than the other depending on the nerve and location of pathology. Imaging must be interpreted in the context of available clinical information and other diagnostic studies, such as electrodiagnostic tests. Here, we offer a comprehensive overview of the role of high-resolution ultrasound and magnetic resonance neurography in the evaluation of the peripheral nerves of the lower extremity and their associated neuropathies.

Role of high-resolution ultrasound and magnetic resonance neurography in the evaluation of peripheral nerves in the upper extremity.

Upper extremity entrapment neuropathies are common conditions in which peripheral nerves are prone to injury at specific anatomical locations, particularly superficial regions or within fibro-osseous tunnels, resulting in pain and potential disability. Although neuropathy is primarily diagnosed clinically by physical examination and electrophysiology, imaging evaluation with ultrasound and magnetic resonance neurography are valuable complementary non-invasive and accurate tools for evaluation and can help define the site and cause of nerve dysfunction which ultimately leads to precise and timely treatment. Ultrasound, which has higher spatial resolution, can quickly and comfortably characterize the peripheral nerves in real time and can evaluate for denervation related muscle atrophy. Magnetic resonance imaging on the other hand provides excellent contrast resolution between the nerves and adjacent tissues, also between pathologic and normal segments of peripheral nerves. It can also assess the degree of muscle denervation and atrophy. As a prerequisite for nerve imaging, radiologists and sonographers should have a thorough knowledge of anatomy of the peripheral nerves and their superficial and deep branches, including variant anatomy, and the motor and sensory territories innervated by each nerve. The purpose of this illustrative article is to review the common neuropathy and nerve entrapment syndromes in the upper extremities focusing on ultrasound and magnetic resonance neurography imaging.

Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography.

Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders. While peripheral nerve involvement is frequent in spastic paraplegia 7 (SPG7), the evidence of peripheral nerve involvement in SPG4 is more controversial. We aimed to characterize lower extremity peripheral nerve involvement in SPG4 and SPG7 by quantitative magnetic resonance neurography (MRN). Twenty-six HSP patients carrying either the SPG4 or SPG7 mutation and 26 age-/sex-matched healthy controls prospectively underwent high-resolution MRN with large coverage of the sciatic and tibial nerve. Dual-echo turbo-spin-echo sequences with spectral fat-saturation were utilized for T2-relaxometry and morphometric quantification, while two gradient-echo sequences with and without an off-resonance saturation rapid frequency pulse were applied for magnetization transfer contrast (MTC) imaging. HSP patients additionally underwent detailed neurologic and electroneurographic assessments. All microstructural (proton spin density [ρ], T2-relaxation time, magnetization transfer ratio) and morphometric (cross-sectional area) quantitative MRN markers were decreased in SPG4 and SPG7 indicating chronic axonopathy. ρ was superior in differentiating subgroups and identifying subclinical nerve damage in SPG4 and SPG7 without neurophysiologic signs of polyneuropathy. MRN markers correlated well with clinical scores and electroneurographic results. MRN characterizes peripheral nerve involvement in SPG4 and SPG7 as a neuropathy with predominant axonal loss. Evidence of peripheral nerve involvement in SPG4 and SPG7, even without electroneurographically manifest polyneuropathy, and the good correlation of MRN markers with clinical measures of disease progression, challenge the traditional view of the existence of HSPs with isolated pyramidal signs and suggest MRN markers as potential progression biomarkers in HSP.

Six-month periodic fasting does not affect somatosensory nerve function in type 2 diabetes patients.

Current strategies for preventing diabetic sensorimotor polyneuropathy (DSPN) are limited mainly to glucose control but rapid decrease of glycemia can lead to acute onset or worsening of DSPN. The aim of this study was to examine the effects of periodic fasting on somatosensory nerve function in patients with type 2 diabetes (T2D). Somatosensory nerve function was assessed in thirty-one patients with T2D (HbA1c 7.8 ± 1.3% [61.4 ± 14.3 mmol/mol]) before and after a six-month fasting-mimicking diet (FMD; n=14) or a control Mediterranean diet (M-diet; n=17). Neuropathy disability score (NDS), neuropathy symptoms score (NSS), nerve conduction velocity and quantitative sensory testing (QST) were analyzed. 6 participants of the M-Diet group and 7 of the FMD group underwent diffusion-weighted high-resolution magnetic resonance neurography (MRN) of the right leg before and after the diet intervention. Clinical neuropathy scores did not differ between study groups at baseline (64% in the M-Diet group and 47% in the FMD group had DSPN) and no change was found after intervention. The differences in sensory NCV and sensory nerve action potential (SNAP) of sural nerve were comparable between study groups. Motor NCV of tibial nerve decreased by 12% in the M-Diet group (P=0.04), but did not change in the FMD group (P=0.39). Compound motor action potential (CMAP) of tibial nerve did not change in M-Diet group (P=0.8) and increased in the FMD group by 18% (P=0.02). Motor NCV and CMAP of peroneal nerve remained unchanged in both groups. In QST M-diet-group showed a decrease by 45% in heat pain threshold (P=0.02), FMD group showed no change (P=0.50). Changes in thermal detection, mechanical detection and mechanical pain did not differ between groups. MRN analysis showed stable fascicular nerve lesions irrespective of the degree of structural pathology. Fractional anisotropy and T2-time did not change in both study groups, while a correlation with the clinical degree of DSPN could be confirmed for both. Our study shows that six-month periodic fasting was safe in preserving nerve function and had no detrimental effects on somatosensory nerve function in T2D patients. https://drks.de/search/en/trial/DRKS00014287, identifier DRKS00014287.

Intraneural Ganglion Cyst of the Tibial Nerve Originating from a Posterior Knee Joint Branch. Case Report on the Use of High-Resolution Volumetric Ultrasound and Magnetic Resonance Neurography.

We report a case of an intraneural ganglion cyst (INGC) of the tibial nerve at the posterior knee joint, diagnosed with ultrasound, 3D ultrasound, and MR neurography.

Sural nerve: imaging anatomy and pathology.

High resolution ultrasound (US) and magnetic resonance (MR) neurography are both imaging modalities that are commonly used for assessing peripheral nerves including the sural nerve (SN). The SN is a cutaneous sensory nerve which innervates the lateral ankle and foot to the base of the fifth metatarsal. It is formed by contributing nerves from the tibial and common peroneal nerves with six patterns and multiple subtypes described in literature. In addition to the SN being a cutaneous sensory nerve, the superficial location enables the nerve to be easily biopsied and harvested for a nerve graft, as well as increasing the susceptibility to traumatic injury. As with any peripheral nerves, pathologies such as peripheral nerve sheath tumors and neuropathies can also affect the SN. By utilizing a high frequency probe in US and high-resolution MR neurography, the SN can be easily identified even with the multiple variations given the standard distal course. US and MRI are also useful in determining pathology of the SN given the specific image findings that are seen with peripheral nerves. In this review, we evaluate the normal imaging anatomy of the SN and discuss common pathologies identified on imaging.

Neuroradiological value of high resolution magnetic resonance neurography (MRN) in the diagnosis of sciatic neuropathy presumably related to COVID-19

Background: In the context of sciatic neuropathy, there have been many etiologies and the need for differentiating between the possible underlying causes is an important matter for early diagnosis and management. COVID-19 has been associated with many peripheral neuropathies and sciatic neuropathy could be potentially a complication. Although, very rare with limited cases published in the literature to date. Methods: We investigated the role of MR neurography in evaluating sciatic neuropathy presumably post- COVID-19 infection in one of our cases after exclusion of other possible causes of sciatic neuropathy using STIR MR neurography. Results: Our STIR MR neurography demonstrated increased signal and size of the left sciatic nerve with 2ry muscular edema in the biceps femoris muscle in keeping radiologically with sciatic neuropathy. Conclusion: MR neurography has proven to be valuable in narrowing the differential diagnosis of the reported imaging findings and showed a very good correlation to the NCVs, laboratory investigations, and sural nerve biopsy. Although a very rare complication, COVID-19 could be a potential direct cause of sciatic neuropathy.

Spatial Distribution and Long-Term Alterations of Peripheral Nerve Lesions in Schwannomatosis.

Purpose To examine the spatial distribution and long-term alterations of peripheral nerve lesions in patients with schwannomatosis by in vivo high-resolution magnetic resonance neurography (MRN). Methods In this prospective study, the lumbosacral plexus as well as the right sciatic, tibial, and peroneal nerves were examined in 15 patients diagnosed with schwannomatosis by a standardized MRN protocol at 3 Tesla. Micro-, intermediate- and macrolesions were assessed according to their number, diameter and spatial distribution. Moreover, in nine patients, peripheral nerve lesions were compared to follow-up examinations after 39 to 71 months. Results In comparison to intermediate and macrolesions, microlesions were the predominant lesion entity at the level of the proximal (p < 0.001), mid- (p < 0.001), and distal thigh (p < 0.01). Compared to the proximal calf level, the lesion number was increased at the proximal (p < 0.05), mid- (p < 0.01), and distal thigh level (p < 0.01), while between the different thigh levels, no differences in lesion numbers were found. In the follow-up examinations, the lesion number was unchanged for micro-, intermediate and macrolesions. The diameter of lesions in the follow-up examination was decreased for microlesions (p < 0.01), not different for intermediate lesions, and increased for macrolesions (p < 0.01). Conclusion Microlesions represent the predominant type of peripheral nerve lesion in schwannomatosis and show a rather consistent distribution pattern in long-term follow-up. In contrast to the accumulation of nerve lesions, primarily in the distal nerve segments in NF2, the lesion numbers in schwannomatosis peak at the mid-thigh level. Towards more distal portions, the lesion number markedly decreases, which is considered as a general feature of other types of small fiber neuropathy.

Diagnostic methods used in patient with diabetic peripheral neuropathy: With special importance on radiological methods

The quality of life of patients with diabetes having peripheral neuropathy can be improved with an early detection of this detrimental diagnosis. This review summarizes the already established diagnostic methods (electrodiagnostic and sensory screening) and the recent radiological diagnostic methods (ultrasonography and magnetic resonance imaging) used in the screening of peripheral nerves health in diabetic patients. Electronic searches were conducted of databases PubMed, Scopus, Google Scholar, and Medline to retrieve the relevant studies in the review. The independent selection, appraisal, and data extraction were done by two reviewers. The searched articles were categorized into three diagnostic methods categories, namely, electrodiagnostic, sensory screening, and radiological. Two diagnostic methods were included under electro diagnostic and radiological methods and eight diagnostic tests were included under sensory screening. High-resolution ultrasonography and magnetic resonance neurography have higher sensitivity and specificity to detect early peripheral nerve lesions among all methods. This review will help clinicians to facilitate the early correct diagnosis of the severity of neuropathy in patients with diabetes.

Long-term Follow-up and Histological Correlation of Peripheral Nervous System Alterations in Neurofibromatosis Type\xa02

PurposeTo examine long-term alterations of the dorsal root ganglia (DRG) and the peripheral nerve in patients with neurofibromatosis type 2 (NF2) by in vivo high-resolution magnetic resonance neurography (MRN) and their correlation to histology.MethodsIn this prospective study the lumbosacral DRG, the right sciatic, tibial, and peroneal nerves were examined in 6 patients diagnosed with NF2 and associated polyneuropathy (PNP) by a standardized MRN protocol at 3 T. Volumes of DRG L3–S2 as well as peripheral nerve lesions were assessed and compared to follow-up examinations after 14–100 months. In one patient, imaging findings were further correlated to histology.ResultsFollow-up MRN examination showed a non-significant increase of volume for the DRG L3: +0.41% (p = 0.10), L4: +22.41% (p = 0.23), L5: +3.38% (p = 0.09), S1: +10.63% (p = 0.05) and S2: +1.17% (p = 0.57). Likewise, peripheral nerve lesions were not significantly increased regarding size (2.18 mm2 vs. 2.15 mm2, p = 0.89) and number (9.00 vs. 9.33, p = 0.36). Histological analyses identified schwannomas as the major correlate of both DRG hyperplasia and peripheral nerve lesions. For peripheral nerve microlesions additionally clusters of onion-bulb formations were identified.ConclusionPeripheral nervous system alterations seem to be constant or show only a minor increase in adult NF2. Thus, symptoms of PNP may not primarily attributed to the initial schwannoma growth but to secondary long-term processes, with symptoms only occurring if a certain threshold is exceeded. Histology identified grouped areas of Schwann cell proliferations as the correlate of DRG hyperplasia, while for peripheral nerve lesions different patterns could be found.

Neuralgic amyotrophy: an underrecognized entity.

Neuralgic amyotrophy (NA) is markedly underdiagnosed in clinical practice, and its actual incidence rate is about 1 per 1000 per year. In the current article, we provide an overview of essential information about NA, including the etiology, clinical manifestations, diagnostic investigations, differential diagnosis, treatment, and prognosis. The causes of NA are multifactorial and include immunological, mechanical, or genetic factors. Typical clinical findings are a sudden onset of pain in the shoulder region, followed by patchy flaccid paralysis of muscles in the shoulder and/or arm. A diagnosis of NA is based on a patient’s clinical history and physical examination. Gadolinium-enhanced magnetic resonance imaging and high-resolution magnetic resonance neurography are useful for confirming the diagnosis and choosing the appropriate treatment. However, before a diagnosis of NA is confirmed, other disorders with similar symptoms, such as cervical radiculopathy or rotator cuff tear, need to be ruled out. The prognosis of NA depends on the degree of axonal damage. In conclusion, many patients with motor weakness and pain are encountered in clinical practice, and some of these patients will exhibit NA. It is important that clinicians understand the key features of this disorder to avoid misdiagnosis.

Hand and Wrist Neuropathies: High-resolution Ultrasonography and MR Neurography.

High-resolution ultrasonography (US) and magnetic resonance neurography (MRN) have followed parallel paths for peripheral nerve imaging with little comparison of the two modalities. They seem equally effective to study a variety of neuropathies affecting large and small nerves in the wrist and hand. This article outlines the technical considerations of US and MRN and discusses normal and abnormal imaging appearances of hand and wrist nerves from etiologies such as entrapment, injury, tumor, and proximal and diffuse neuropathy, with specific case illustrations.

Performance Evaluation of High-Resolution Ultrasound versus Magnetic Resonance Imaging in Diagnosing Peripheral Nerve Pathologies.

Background  High-resolution ultrasound (HRUS) and magnetic resonance neurography (MRN) are considered complementary to clinical and neurophysiological assessment for neuropathies. Aims  The aim of our study was to compare the accuracy of HRUS and MRN for detecting various peripheral nerve pathologies, to choose the correct investigation to facilitate prompt patient management. Materials and Methods  This prospective study was done using HRUS with 14 MHz linear-transducer and 3 or 1.5T MR in cases referred for the assessment of peripheral nerve pathologies. Image interpretation was done using a scoring system (score 0–3 confidence level) to assess for nerve continuity/discontinuity, increased nerve signal/edema, fascicular change, caliber change, and neuroma/mass lesion. We determined the accuracy, sensitivity, and specificity of these modalities compared with the diagnostic standard determined by surgical and/or histopathological, if not performed then clinical and/or electrodiagnostic evaluation. Results  The overall accuracy of MRN was 89.3% (specificity: 66.6%, sensitivity: 92.6%, negative predictive value [NPV]: 57.1%, positive predictive value [PPV]: 95%) and that of HRUS was 82.9% (specificity: 100%, sensitivity: 80.4%, NPV: 42.8, PPV: 100). The confidence level for detecting nerve discontinuity and change in nerve caliber was found to be higher on ultrasonography than magnetic resonance imaging (MRI) (100 vs. 70% and 100 vs. 50%, respectively). Pathology of submillimeter caliber nerves was accurately detected by HRUS and these could not be well-visualized on MRI. Conclusion  HRUS is a powerful tool that may be used as the first-line imaging modality for the evaluation of peripheral nerve pathologies, and a better means of evaluation of peripheral nerves with submillimeter caliber.

Visualization of the morphology and pathology of the peripheral branches of the cranial nerves using three-dimensional high-resolution high-contrast magnetic resonance neurography

PurposeTo assess the feasibility and advantages of high-resolution high-contrast magnetic resonance neurography (HRHC-MRN) for visualizing the morphology and pathology of the peripheral branches of cranial nerves. MaterialscMRN (3D SPACE STIR sequence) and HRHC-MRN (contrast enhanced 3D SPACE STIR sequence) were performed at 3 T MR unit on 16 volunteers and 12 patients with head and neck tumors. Quantitative measurements such as SNR, CNR and CR were calculated. Three readers evaluated the continuity of the 10 major peripheral branches of cranial nerves using a 5-score scale (scores 0–4). Interobserver variability was tested. Quantitative measurements and scores were compared between cMRN and HRHC-MRN. The imaging features of the nerve pathology were analyzed. ResultsThe CRs of nerve to bone marrow, nerve to muscle, and nerve to gland were significantly higher with HRHC-MRN than with cMRN (P = 0.014, P = 0.02, P <0.001, respectively). The scores of all nerve trunks were significantly higher with HRHC-MRN than with cMRN (all, P < 0.001). For all nerves on HRHC-MRN, the interobserver consistency was excellent across the three readers (all κ > 0.8). The scores of the inferior alveolar nerve, hypoglossal nerve, lingual nerve, facial nerve, infraorbital nerve, masseteric nerve, glossopharyngeal/vagus nerve, supraorbital nerve, auriculotemporal nerve and buccal nerve were 3.95, 3.77, 3.63, 3.25, 3.15, 3.04, 3.04, 2.87, 2.79, 1.88, respectively. ConclusionHRHC-MRN provides improved visualization of the peripheral branches of cranial nerves and is a promising nerve-selective imaging method for evaluating cranial nerve morphology and pathology.

[MR Neurography: Current Several Issues for Novice Radiologists].

말초신경병증의 진단을 위해 MR neurography의 사용이 점차 증가하고 있다. 고대조도와 고해상도로 말초신경을 직접 영상화한 MR 영상을 MR neurography라고 하고, 지방억제 T2 강조영상과 확산강조영상이 흔히 사용되는 시퀀스이다. 작은 직경, 복잡한 해부학적 구조를 가진 말초신경을 합리적 시간 안에 영상화하기 위해서 최신의 isotropic 3차원 기법, 다양한 고속영상기법, post-processing 영상 기법 등이 사용된다. 이런 발전들로 인해 MR neurography가 유용하게 사용되지만 항상 적절한 MR neurography 영상을 얻을 수 있는 것은 아니다. 적절한 MR neurography 영상을 얻기 위해 영상의학과 의사가 고려해야 할 다음의 몇가지 쟁점들이 있다. 이에는 적절한 표준 프로토콜의 선책, 지방억제 기법의 선택, 해상도와 field of view와 slice thickness 간의 상호 관계의 이해, 적절한 post-processing 영상 기법의 적용, 2차원 영상획득 기법과 3차원 영상획득 기법의 장단점, 근위부 말초신경과 말단부 말초신경의 T2 대조도의 차이, 말초신경에 인접한 정맥이 MR neurography에 미치는 영향, 확산강조영상에서 기하학적 왜곡의 발생과 적절한 b value의 선택 등이다. 이런 쟁점들을 잘 이해하는 것이 경험이 적은 영상의학과 의사가 적절한 MR neurography 영상을 얻고, 말초신경병증을 정확히 평가하는 데 많은 도움이 될 것이다.

Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy.

To characterize and quantify peripheral nerve lesions and muscle degeneration in clinically, genetically, and electrophysiologically well-classified, nonpediatric patients with 5q-linked spinal muscular atrophy (SMA) by high-resolution magnetic resonance neurography (MRN). Thirty-one adult patients with genetically confirmed 5q-linked SMA types II, IIIa, and IIIb and 31 age- and sex-matched healthy volunteers were prospectively investigated. All patients received neurologic, physiotherapeutic, and electrophysiologic assessments. MRN at 3.0T with anatomic coverage from the lumbosacral plexus and proximal thigh down to the tibiotalar joint was performed with dual-echo 2D relaxometry sequences with spectral fat saturation and a 3D T2-weighted inversion recovery sequence. Detailed quantification of nerve injury by morphometric and microstructural MRN markers and qualitative classification of fatty muscle degeneration were conducted. Established clinical scores and compound muscle action potentials discriminated well between the 3 SMA types. MRN revealed that peroneal and tibial nerve cross-sectional area (CSA) at the thigh and lower leg level as well as spinal nerve CSA were markedly decreased throughout all 3 groups, indicating severe generalized peripheral nerve atrophy. While peroneal and tibial nerve T2 relaxation time was distinctly increased at all analyzed anatomic regions, the proton spin density was clearly decreased. Marked differences in fatty muscle degeneration were found between the 3 groups and for all analyzed compartments. MRN detects and quantifies peripheral nerve involvement in SMA types II, IIIa, and IIIb with high sensitivity in vivo. Quantitative MRN parameters (T2 relaxation time, proton spin density, CSA) might serve as novel imaging biomarkers in SMA to indicate early microstructural nerve tissue changes in response to treatment.

P13. Semi-automatic, machine-learning based segmentation of peripheral nerves for quantitative morphometry: Comparison of low- and high-resolution MR neurography

Background Current state-of-the-art to diagnose peripheral neuropathy are neurological examination and electrodiagnostic studies. However, deeply situated nerves and plexus remain difficult to assess using these techniques, hence magnetic resonance neurography (MRN) emerged as a complementary method. MRN remains a qualitative approach and quantification, in terms of extraction of imaging biomarkers is needed to facilitate diagnosis and for follow-up examinations. Towards a multi-parametric quantitative imaging approach, accurate nerve segmentation needs to be performed first. Hampered by time-consuming manual annotation, we developed a semi-automatic, time-effective, hence clinically feasible segmentation approach based on machine-learning algorithms. In this study, we compared its performance on low- and high-resolution MRN. Materials and methods We acquired images of 9 healthy volunteers at the upper leg using 3 MRN sequences: lower resolution turbo inversion recovery magnitude (TIRM, voxel size of 78 × 78 × 4.0 mm3), lower resolution spin echo T2-weighted (T2, voxel size .52 × .52 × 4.0 mm3), and high resolution, fat-suppressed spin echo T2-weighted (hrT2, voxel size .25 × .25 × 3.3 mm3). An expert manually segmented the sciatic nerve on the T2 and hrT2 images (ground truth, GT). Our segmentation algorithm is based on a decision forest with context- and intensity-based descriptors. We split the images into two sets: a multi-modal low-resolution (TIRM and T2), and a mono-modal high-resolution (hrT2). We perform a leave-one-out cross-validation for both sets and calculate the Dice coefficient to the manually annotated GT. Cross-sectional areas (CSA) were calculated from the middle slice of the image stack. Results Dice coefficients of 0.723 ± 0.202 and 0.735 ± 0.080 are achieved for the low- and high-resolution MRN images (p = 0.858, CI 95 %). Segmentation results and 3-D renderings of the same nerve segmented in low- and high-resolution are shown in Fig. 1 . CSA for GT were 34.0 ± 5.5 mm2 (T2), and 35.4 ± 8.5 mm2 (hrT2), using semi-automatic segmentation 24.8 ± 7.6 mm2 (T2), and 25.7 ± 10.6 mm2 (hrT2). Discussion and conclusion Semi-automatic, hence fast peripheral nerve segmentation is feasible in both low- and high-resolution MRN images of the upper leg, providing image-based quantitative morphometric data. The equal performance of the low-resolution images might be due to the multi-modal setting, which possibly provides more discriminative descriptors for nerve. The lower CSA using semi-automatic segmentation is due to more rigorous segmentation constraints. Future work will include the application of our method to localize and quantify nerve lesions in images of patients diagnosed with peripheral neuropathy.

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.

BackgroundThe clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co‐occurrence of rhabdoid tumor and schwannomas in the same patient has not so far been reported.MethodsWe investigated a family with members harboring a germline SMARCB1 deletion by means of whole‐body MRI as well as high‐resolution microstructural magnetic resonance neurography (MRN). Breakpoint‐spanning PCRs were performed to characterize the SMARCB1 deletion and its segregation in the family.ResultsThe index patient of this family was in complete continuous remission for an atypical teratoid/rhabdoid tumor (AT/RT) treated at the age of 2 years. However, at the age of 21 years, she exhibited paraparesis of her legs and MRI investigations revealed multiple intrathoracic and spinal schwannomas. Breakpoint‐spanning PCRs indicated that the germline deletion segregating in the family encompasses 6.4‐kb and includes parts of SMARCB1 intron 7, exons 8–9 and 3.3‐kb located telomeric to exon 9 including the SMARCB1 3′ UTR. The analysis of sequences at the deletion breakpoints showed that the deletion has been caused by replication errors including template‐switching. The patient had inherited the deletion from her 56‐year‐old healthy mother who did not exhibit schwannomas or other tumors as determined by whole‐body MRI. However, MRN of the peripheral nerves of the mother's extremities revealed multiple fascicular microlesions which have been previously identified as indicative of schwannomatosis‐associated subclinical peripheral nerve pathology.ConclusionThe occurrence of schwannomatosis‐associated clinical symptoms independent of the AT/RT as the primary disease should be considered in long‐term survivors of AT/RT. Furthermore, our investigations indicate that germline SMARCB1 mutation carriers not presenting RTs or schwannomatosis‐associated clinical symptoms may nevertheless exhibit peripheral nerve pathology as revealed by MRN.