Neuroimaging in diagnosis of atypical polyradiculoneuropathies: report of three cases and review of the literature

Gasparotti, Roberto; Lucchetta, Marta; Cacciavillani, Mario; Neri, Walter; Guidi, Carlo; Cavallaro, Tiziana; Ferrari, Sergio; Padua, Luca; Briani, Chiara

doi:10.1007/s00415-015-7770-z

Cited by 23 publications

(18 citation statements)

References 45 publications

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“…Peculiar US patterns in some demyelinating hereditary neuropathies (diffuse homogeneous increase of CSA in the entire length of the nerves), clearly different from those found in typical CIDP, proved to be useful in our cohort (patients #4, 5) suggesting the correct diagnosis. MRI, in particular MR‐neurography, has also proven to be a useful complementary tool in the diagnostic work‐up of neuropathies, especially in selected patients with atypical findings where a close examination of proximal segments, usually inaccessible to US, is crucial . However, being an expensive and time‐consuming exam, the use of MR‐neurography is still limited in routine clinical practice …”

Section: Discussionmentioning

confidence: 99%

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Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

Campagnolo

Taioli

Cacciavillani³

et al. 2020

J Peripheral Nervous Sys

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Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men, mean age 49.2 ± 16.1) diagnosed with and treated as CIDP, in whom mutations or variants of unknown significance (VUS) in genes associated with hereditary neuropathies were reported. All underwent neurological and neurophysiological examination, eight also cerebrospinal fluid (CSF) analysis. In 4/9, nerve ultrasound and/or MR‐neurography were performed. All the patients complained of progressive upper or lower limbs sensory‐motor symptoms, with heterogeneous disease duration (1‐34 years, mean 8.6 ± 10.8). Neurophysiology showed demyelinating signs in seven patients, mixed findings with predominant axonal damage in two patients. Neuroimaging disclosed diffuse abnormalities at proximal and distal segments. Molecular screening showed PMP22 duplication in two patients, mutations in the MPZ, EGR2, and GJB1 genes were reported in each of the remaining patients. The two patients with mixed neurophysiological findings had p.Val30Met mutation in the transthyretin gene. Two patients had VUS in the MARS and HSPB1 genes. Four patients had partial response to immunomodulant therapies, and CSF and neurophysiological features suggesting an inflammatory condition concomitant with the hereditary neuropathy. Hereditary neuropathy may be misdiagnosed with CIDP. The most common pitfalls are CSF (high protein levels and oligoclonal bands), incorrect interpretation of neurophysiology, and transient benefit from therapies. Neuroimaging may be helpful in cases with atypical presentations or when severe axonal damage complicate the neurophysiological interpretation.

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Section: Discussionmentioning

confidence: 99%

“…Transient or lack of benefit from immunomodulatory therapies should lead to consider a hereditary neuropathy. Neuroimaging may be helpful in the diagnostic workup …”

Section: Discussionmentioning

confidence: 99%

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

Campagnolo

Taioli

Cacciavillani³

et al. 2020

J Peripheral Nervous Sys

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“…We recently showed that high‐resolution ultrasound (HRUS) is a sensitive technique to identify patients with MMN and CIDP with characteristic NCS abnormalities . Only a few previous reports in single patients and a retrospective chart review have noted abnormal ultrasound findings in patients without these characteristic NCS findings . Here we describe six patients suspected of an inflammatory neuropathy who lacked electrodiagnostic features of demyelination but had abnormal ultrasound findings.…”

Section: Introductionmentioning

confidence: 90%

Nerve ultrasound can identify treatment‐responsive chronic neuropathies without electrodiagnostic features of demyelination

et al. 2019

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Introduction We present a case series of six treatment‐naive patients with clinical phenotypes compatible with chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy without electrodiagnostic features of demyelination but with abnormal peripheral ultrasound findings who responded to treatment. Methods All six patients underwent a complete set of ancillary investigations, including extensive nerve conduction studies. We also performed standardized nerve ultrasound of median nerves and brachial plexus as part of a larger effort to evaluate diagnostic value of sonography. Results Nerve conduction studies did not show conduction block or other signs of demyelination in any of the six patients. Sonographic nerve enlargement was present in all patients and was most prominent in proximal segments of the median nerve and brachial plexus. Treatment with intravenous immunoglobulin resulted in objective clinical improvement. Discussion Our study provides evidence that nerve ultrasound represents a useful complementary diagnostic tool for the identification of treatment‐responsive inflammatory neuropathies.

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“…3D MRN has provided a further valuable tool for the assessment of the symmetry and variations in signal intensity and size along the course of plexuses and nerve trunks in patients with CIDP 71 , and has enabled characterization of some unusual features in patients with atypical CIDP variants. For example, in one study, 3D MRN revealed longitudinal morphological changes from the cervical roots to the nerve trunks of the proximal arm in 88% of patients 72 .…”

Section: Inflammatory and Inherited Neuropathiesmentioning

confidence: 99%

New technologies for the assessment of neuropathies

et al. 2017

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Peripheral neuropathies are among the most common neurological disorders 1 . In routine clinical practice, diagnosis of peripheral neuropathies is typically based on clinical assessment, nerve conduction studies and needle electromyography, which can determine whether symptoms are caused by primary axonal damage or demyelinating damage. This distinction is often relevant to therapeutic choices and to prognosis, as axonal damage typically reflects an inflammatory (for example, vasculitic) or degenerative (for example, hereditary or idiopathic) process that correlates with disability, whereas demyelinating damage can reflect a hereditary neuro pathy, but more often reflects an acquired immunemediated neuropathy. Besides metabolic, inflammatory or primary degenerative neuropathies, peripheral nerves can also be damaged by compression from adjacent tissue structures, such as tendons, cysts or haematomas. In this case, proper identification of the site, nature and degree of the lesion might be challenging, but is relevant to treatment and prognosis. Moreover, some patients present with symptoms that suggest damage to small nerve fibres, which nerve conduction studies cannot be used to detect.In the past 15 years, several techniques have become available to investigate focal and diffuse peripheral neuropathies, and their reliability has widened the spectrum of diagnostic tools for clinicians and improved assessment of neuropathies. In this Review, we provide an overview of these new and emerging technologies. We first discuss peripheral nerve imaging with MRI and ultrasonography, which can provide information about the precise localization of neuro pathies and the pathological processes involved in large-fibre neuropathies, and can complement clinical and electrophysiological evaluation. We then consider techniques that can provide diagnostic information when the pathological process is restricted to small nerve fibres and is consequently not detectable with nerve conduction studies or neuroimaging. These include skin biopsy, which is established in clinical practice, and the emerging techniques of corneal confocal microscopy, laser-evoked potentials and heat-related and pain-related evoked potentials, and microneurography.Nerve imaging technology Advances in imaging techniques have made it possible to gain great insight into nerve pathology with magnetic resonance and ultrasound. Each approach offers distinct advantages, and can provide different information about damage to large myelinated fibres. Abstract | Technical advances are rapidly changing the clinical and instrumental approach to peripheral nerve diseases. Magnetic resonance neurography, diffusion tensor imaging and nerve ultrasonography are increasingly entering the diagnostic workup of peripheral neuropathies as tools that complement neurophysiology and enable investigation of proximal structures, such as plexuses and roots. Progress in the design of magnetic resonance scanners and sequences, and the development of high-frequency ultrasound probes mean th...

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Neuroimaging in diagnosis of atypical polyradiculoneuropathies: report of three cases and review of the literature

Cited by 23 publications

References 45 publications

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

Nerve ultrasound can identify treatment‐responsive chronic neuropathies without electrodiagnostic features of demyelination

New technologies for the assessment of neuropathies

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