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Objective: To evaluate the efficacy and safety of a low‐dose, long‐term rituximab regimen in the treatment of idiopathic CIDP. Methods: This study included 15 CIDP patients treated with rituximab. Patients were administered 600 mg of rituximab intravenously every 6 months. Baseline evaluation was conducted before the initiation of rituximab treatment and subsequent evaluations were conducted 6 months after each rituximab infusion at on‐site visits. Clinical improvement was objectively determined by improvement of scale score at least decrease ≥1 INCAT or mRS or increase ≥4 MRC or ≥8 cI‐RODS after each infusion compared to baseline evaluation. Results: Fifteen CIDP patients were included and 10 of them were typical CIDP and five were distal CIDP. Nine in 15 (60%) patients after first infusion and three in six (50%) patients after second infusion exhibited significant clinical improvement compared to baseline evaluation. Additionally, rituximab facilitated a reduction or cessation of other medications in 73% of patients at last visit. The safety profile was favorable, with no reported adverse events. Conclusion: Rituximab presents a promising therapeutic option for idiopathic CIDP, offering both efficacy and safety with a low‐dose, long‐term regimen. [ABSTRACT FROM AUTHOR]

This article presents a case study of a patient with unilateral upper-limb tremor caused by C6 radiculopathy and demyelinating neuropathy. The patient experienced left-arm tremor triggered by left-elbow flexion and reported numbness in the lateral three digits of the left hand. Treatment with intravenous immunoglobulin and onabotulinumtoxinA injections improved neuropathy symptoms and tremor. The article explores the relationship between physiological tremor and muscle shortening, as well as the presence of upper-limb tremor in demyelinating neuropathies. The authors suggest that impaired sensory feedback and abnormal peripheral nerve conduction may contribute to the generation of tremors in these cases. [Extracted from the article]

Peripheral neuropathy is a prevalent complication in plasma cell disorders, posing significant diagnostic and therapeutic challenges. This study presents three cases initially diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP). Despite initial symptom regression post-immunomodulatory treatment, the patients exhibited progressive neurological deficits. Advanced laboratory evaluation confirmed monoclonal protein presence, yet traditional diagnostic methods, including bone marrow biopsy and flow cytometry, yielded normal results. Utilizing 18F-FDG PET/CT, we identified multiple hypermetabolic vertebral lesions, which upon biopsy, confirmed the diagnosis of plasmacytoma. Our findings underscore the utility of PET/CT as a reliable diagnostic tool for monoclonal gammopathy associated neuropathy, advocating for its consideration in cases with equivocal diagnosis. When the diagnosis is in doubt, biopsy of a lesion may facilitate early and accurate diagnosis, potentially influencing treatment strategies and patient outcomes. [ABSTRACT FROM AUTHOR]

Background: There is growing evidence that severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) or COVID-19 infection is associated with the development of immune mediated neuropathies like chronic inflammatory demyelinating polyneuropathy (CIDP), but the impact of SARS-CoV-2 vaccination and COVID-19 infection on genetic disorders such as Charcot-MarieTooth (CMT) remains unclear. Case presentation: A 42-year-old male with occulted CMT neuropathy type lA (CMT1A) who developed limb numbness and weakness after the second SARSCoV-2-vaccination was confirmed by identifying characteristic repeats in the p11.2 region of chromosome 17. Due to the progressive deterioration of muscle strength over 8weeks, limb atrophy, moderately elevated protein counts in the cerebrospinal fluid, and significant improvement with intravenous human immunoglobulin, which were characteristic of acquired inflammatory neuropathies, he was eventually diagnosed with CIDP superimposed on CMT1A. However, after a three-month plateau, the patient contracted COVID-19, which led to repeated and worsening symptoms of limb weakness and atrophy, thus was diagnosed with a recurrence of CIDP and treated with Intravenous immunoglobulin and methylprednisolone 500mg/d for 5 consecutive days, followed by oral prednisone and mycophenolate mofetil tablets. On 2month follow-up, he exhibited remarkable clinical improvement and could walk independently with rocking gait. After 1year of follow-up, the patient's condition was stable without further change. Conclusion: Our case indicates that CMT1A can deteriorate after SARS-CoV-2 vaccination. Thus, SARS-CoV-2 vaccination should be considered a potential predisposing factor for CMT1A worsening. The possible superposition of CMTIA and CIDP in the context of SARS-CoV-2 infection or immunity suggests that any clinical exacerbation in patients with CMT1A should be carefully evaluated to rule out treatable superposition inflammation. In addition, electrophysiological and imaging examination of the proximal nerves, such as the axillary nerve, is helpful for the diagnosis of CIDP. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Patients affected by chronic inflammatory demyelinating polyradiculoneuropathy require close follow up due to the neuronal demyelination along with axonal degeneration associated with the disease process, giving the opportunity to the medical team of adequating therapeutics and other medical interventions, according to the evolution of the symptoms, to prevent irreversible axonal degeneration. [ABSTRACT FROM AUTHOR]

Objectives: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy defined by clinical progression for more than 2 months. 16-20% of CIDP patients may present with rapidly progressive weakness that resembles GBS, known as acute-onset CIDP (A-CIDP). However, it is challenging to distinguish from GBS-TRF because of their similar clinical symptom and features. In this case review, we report a patient with A-CIDP with the detection of anti-GM3 and anti-sulfatides antibodies, which rarely have been in A-CIDP and may account for her progressive and recurrent symptoms. Methods: We analyzed existing medical literature and described a clinical case of A-CIDP with antibodies positive. Results: We reported a 56-year-old female presented with bilateral lower extremity weakness and distal numbness. She experienced similar symptoms four times and responded well to the IVIg therapy. Lumbar puncture demonstrated albumin-cytologic dissociation and EDX examination revealed multiple peripheral nerve damage. After ruling out other demyelination diseases, a diagnosis of A-CIDP was made. Discussion: The antiganglioside and anti-sulfatide antibodies are involved in CIDP pathogenesis and can help to distinguish A-CIDP and other variants. To prevent secondary damage, it is important to monitor relapse and remission symptoms along the treatment line. A rare case of A-CIDP is discussed concerning the detection of anti-GM3 and anti-sulfatides antibodies, thus making a retrospective comparison of antibodies in some literature to understand A-CIDP better. [ABSTRACT FROM AUTHOR]

Background and purpose Methods Results Conclusions The amplitude, timing, and determinants of improvement with available treatments are uncertain in chronic inflammatory demyelinating polyneuropathy (CIDP). Our primary objective was to quantify categorized outcomes with routine care.We retrospectively studied treatment response within 36 months from initiation in 112 consecutive subjects with CIDP. Response was classified into a proposed new "CIDP treatment‐response category" (CT‐RC), based on achieved endpoints. Determinants of the CT‐RC, of timing of maximum improvement, and of treatment discontinuation were ascertained.The CT‐RC demonstrated high concurrent validity with current outcome measures. Thirty‐six subjects (32.1%) achieved a “complete response,” 37 (33%) a “good partial response,” 10 (8.9%) a “moderate partial response,” and 15 (13.4%) a “poor partial response.” Fourteen subjects (12.5%) were “nonresponsive.” The CT‐RC was independently predicted only by age. Mean time to maximum improvement was 12.1 months (range = 1–36) and was not associated with any pretreatment covariate. Treatment discontinuation occurred in 24 of 62 (38.2%) partial responders and was only associated with shorter pretreatment disease duration. Nonresponders were older and received a similar number of treatments compared to responders.CT‐RC classification indicates persistent disability in >60% of treatment responders in CIDP. Timing of maximum improvement is variable, frequently delayed, and unpredictable. Treatment withdrawal without deterioration is achievable in approximately 40% of subjects and may be more likely with prompt treatment. Treatment withdrawal in partial responders and limited escalation in nonresponders suggest implication of physician‐ and patient‐related factors in suboptimal response. More effective treatments/treatment methods and better understanding of other factors influencing response are needed in CIDP. [ABSTRACT FROM AUTHOR]

Background and purpose Methods Results Conclusions Reports of patients who have autoimmune nodopathies concurrent with nephrotic syndrome are increasing. We investigated whether proteinuria could be a biomarker of autoimmune nodopathies.Qualitative urinalysis results were retrospectively obtained from 69 patients who were diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) at a hospital in Japan. Proteinuria was graded as mild to severe (i.e., mild, 30–99; moderate, 100–299; severe, 300 mg/dL or more) according to the results of the urine dipstick test. Autoantibodies against the paranodal proteins contactin 1 (CNTN1), neurofascin 155 (NF155), and contactin‐associated protein 1 (Caspr1) and the nodal protein neurofascin 186 (NF186) were measured, and the predominant IgG subclass was determined by enzyme‐linked immunosorbent assay in sera from the 69 patients.Four patients (6%), five patients (7%), and one (1%) patient were positive for anti‐CNTN1, anti‐NF155, and anti‐Caspr1 IgG4 antibodies, respectively. No patients had IgG4 antibodies against NF186. Proteinuria of mild or greater levels was found in three patients with anti‐CNTN1 IgG4 and two patients with anti‐NF155 IgG4 antibodies. The autoantibody‐positive patients more frequently had proteinuria of mild or greater levels than the seronegative patients (p = 0.01).Proteinuria is a possible biomarker of autoimmune nodopathies associated with autoantibodies targeting CNTN1 or NF155. Urinalysis results should be carefully checked for quick differentiation of autoimmune nodopathies from CIDP. Patients who present with nephrotic syndrome should be tested for anti‐CNTN1 IgG4 antibodies, and patients who exhibit mild proteinuria should be tested for anti‐NF155 IgG4 antibodies. [ABSTRACT FROM AUTHOR]

Introduction/Aims Methods Results Discussion Not all patients with chronic inflammatory demyelinating polyneuropathy (CIDP) have evidence of demyelination on nerve conduction studies (NCS). Patients with “supportive” evidence of CIDP on cerebrospinal fluid (CSF), magnetic resonance imaging (MRI), ultrasound (US), or nerve biopsy but not on NCS, often receive immunomodulating therapy. We evaluated the treatment response of patients with clinical and supportive features of CIDP lacking NCS evidence of demyelination.Retrospective chart review was conducted on 232 patients who met CIDP clinical criteria and were treated with disease‐modifying therapy. Patients included did not have NCS criteria of demyelination, but did have supportive CSF, MRI, or US findings consistent with CIDP. A positive treatment response was defined as at least a one‐point improvement in the modified Rankin scale (mRS), or a four‐point increase in the Medical Research Council sum score (MRCSS).Twenty patients met criteria: 17 of the 18 (94%) patients with CSF protein >45 mg/dL, 6 of the 14 (43%) with MRI lumbosacral root or plexus enhancement, and 4 of the 6 (67%) with enlarged proximal nerves on US. Eighteen patients received intravenous immunoglobulin, 10 corticosteroids, one plasma exchange, and six other immunomodulatory therapies. Twelve patients had a positive treatment response on the MRCSS or mRS. The presence of MRI lumbosacral root or plexus enhancement was associated with a positive treatment response.A trial of immunomodulating treatment should be considered for patients with clinical features of CIDP in the absence of NCS evidence of demyelination, particularly when there is MRI lumbosacral root or plexus enhancement. [ABSTRACT FROM AUTHOR]

Introduction: Peripheral neuropathy is common in clinical practice, with a reported prevalence of 2.4% in the general population. There are numerous aetiologies for peripheral neuropathy like diabetes, ischaemia, vasculitis, inflammatory demyelinating disorders, nutritional deficiencies, paraproteinemic disorders, paraneoplastic syndromes, toxic exposures, and hereditary neuropathies. An exhaustive haematological, biochemical, and serological work-up, cerebrospinal fluid evaluation, electrodiagnostic tests, and nerve biopsy are required when overlapping clinical features present a diagnostic challenge. Aim: To analyse the histopathological characteristics of nerve biopsies in individuals with peripheral neuropathy. Materials and methods: This cross-sectional study was conducted in the Department of Pathology at Kasturba Medical College from January 2011 to December 2016. Nerve biopsies received in the Department of Pathology, Kasturba Medical College and Hospitals in the Ambedkar Circle and Attavar area, as well as at Government Wenlock Hospital, Mangaluru, Karnataka, India were studied. Clinical and laboratory data were collected from biopsy requisition forms and patient case records from the aforementioned hospitals. Results were presented in numbers and percentages. Results: A total of 134 nerve biopsies were included in the study. The age range of all cases studied was 7-86 years, with a mean age of 51.8 years. The study population consisted of 63.4% males and 36.6% females, resulting in a male-to-female ratio of 1.7:1. Vasculitic Neuropathy (VN) accounted for 38.1% cases, followed by chronic inflammatory neuropathies (21.7%) and Diabetic Neuropathy (DN) (12.6%). Other diagnosis included ischaemic neuropathy (6.7%), Hereditary Motor and Sensory Neuropathy (HMSN) (3.7%), subacute inflammatory demyelinating neuropathy (3.0%), as well as two cases each of Hansen’s neuritis, amyloid neuropathy, and acute inflammatory demyelinating neuropathy (1.5% each). One case of toxic neuropathy (0.7%) was identified, while 9.0% of cases displayed histological features that were either non specific or not characteristic of any specific diagnosis. Conclusion: Vasculitic neuropathy was found to be the most common aetiology of peripheral neuropathy, followed by Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and DN. The histopathological examination of nerve biopsies is a useful tool in distinguishing between diseases with overlapping clinical features, confirming or excluding vasculitis, and diagnosing hereditary conditions in settings where genetic testing is unavailable or unaffordable.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an orphan disease of the peripheral nervous system. The clinical phenotypes of CIDP may influence the choice of primary pathogenetic therapy. In some cases, viral infection may be a trigger for the development of an immune-mediated process. The role of coronavirus infection (COVID-19) as a trigger of the clinical manifestation of CIDP, as well as the impact of COVID-19 on the disease course and response to pathogenetic therapy remains an unexplored issue. The paper presents a series of clinical cases CIDP with manifestations after COVID-19 infection and review of publications.

Neurological immune-related adverse events (irAE) are rare but potentially fatal complications associated with the use of immune checkpoint inhibitors (ICI). Recently, there has been a trend towards an increase in the incidence of these cases. We present two case reports of demyelinating polyneuropathy in patients with skin melanoma treated with pembrolizumab or nivolumab. Unawareness of neurological irAE induced by ICI leads to delayed diagnosis and medical treatment, and this may result in persistent neurological deficit or even patients’ death. Neurological irAEs include myasthenia gravis, aseptic meningitis, encephalitis, myelitis, inflammatory demyelinating neuropathy, myositis or their combinations, etc. Considering their variability in patients treated with ICI and poor representation in publications, each case report can be of practical value.

Introduction: Guillain–Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) are inflammatory polyneuropathies with an autoimmune etiology. These diseases differ mainly in the timing of their course but also in certain clinical differences. Electroneurography and electromyography are crucial for fulfilling the primary (for CIDP) and secondary (for GBS) diagnostic criteria. High-resolution ultrasound (HRUS) is recognized as a complementary method in the diagnosis of CIDP and GBS. Aim: The aim of this study was to present the neurophysiological and ultrasound findings of patients with clinically diagnosed inflammatory neuropathies (GBS and CIDP). Material and Methods: We collected data from clinically confirmed patients with GBS (3 persons) and CIDP (6 persons). The neurography and high-resolution ultrasound examinations according to the UPSS scale were performed. Results: The neurography tests of GBS and CIDP patients showed mainly demyelinating lesions of the examined nerves, often with abnormal F-wave recordings. Examination using HRUS in GBS patients showed mild and regional nerve swelling with hypoechoic bundles with a predilection for proximal segments and cervical spinal nerve roots. In contrast, CIDP patients had diffused nerve swelling with hypoechoic bundles of greater severity and extent than those with GBS. Conclusion: Neurophysiological tests and HRUS of peripheral nerves, plexi, and roots performed together can be very valuable, complementary diagnostic methods for the early diagnosis and effective treatment of inflammatory polyneuropathies. [ABSTRACT FROM AUTHOR]

Background/Objectives: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune disease. Neuropathic pain (NP), related to peripheral inflammation, is among its earliest manifestations. This preliminary open-label investigation aimed to evaluate the efficacy of ultramicronized Palmitoylethanolamide (umPEA) in the management of NP. Methods: A total of 14 patients with CIDP, already undergoing immunoglobulin (Ig) therapy, were divided into two groups: Group A received umPEA 600 mg twice daily in addition to Ig for 60 days, followed by Ig alone until the end of the observation (180 days); Group B received Ig alone for 120 days and subsequently umPEA + Ig in the last 60 days of the study. Painful symptom intensity and quality of life were assessed by the Numeric Rating Scale, Neuropathic Pain Symptoms Inventory, and Five Dimensions Health Questionnaire. The safety umPEA profile was evaluated. Results: UmPEA in addition to immunoglobulins allowed for a significant improvement over time in all NP symptoms intensity (p = 0.0007) and in patients' quality of life (p = 0.0036). Conclusions: This study suggests umPEA as a safe and effective treatment in addition to immunoglobulins to improve NP, ameliorating the patient's health status. These results highlight the importance of neuroinflammation modulation in the management of CIDP's painful symptoms, drawing attention to umPEA's potential use also in neuropathies of different etiologies. [ABSTRACT FROM AUTHOR]

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and heterogeneous but treatable immune‐mediated neuropathy. The pathogenesis of CIDP is complex interplay of diverse immune mechanisms involving cellular and humoral pathways. The European Academy of Neurology/Peripheral Nerve Society guidelines were reissued in 2021, and the classification and diagnostic criteria were changed. Treatments include immunoglobulin, steroid, and plasmapheresis are effective, including remission induction and maintenance therapy. Maintenance treatments are often required for years, and treatment regimens require careful and regular adjustments to avoid undertreatment or overtreatment. In this review, the new guidelines, treatment recommendations based on guidelines and expert opinion, and future treatments including anti CD20 monoclonal antibody, FcRn blocker, and Cs1 inhibitor are discussed. [ABSTRACT FROM AUTHOR]

BackgroundChronic inflammatory demyelinating polyneuropathy (CIDP) is a rare disease, and the potential risk of cancer in patients with CIDP remains an important concern during treatment. However, a comprehensive epidemiological study examining this association is yet to be conducted. This study aimed to investigate the incidence of cancer in patients with CIDP in South Korea using data from the Korean Health Insurance Review and Assessment Service (HIRA) database.MethodsData from the HIRA database between January 2016 and June 2021 were analyzed. The actual incidence of cancer in patients with CIDP was compared with the expected incidence based on the general population statistics in South Korea, with adjustments for age.ResultsIn total, 888 patients with CIDP were included in the analysis, of whom 50 (5.63% of malignancy incidence) were newly diagnosed with cancer during the study period. Among the patients with CIDP diagnosed with cancer, 32 (64.00%) were aged 60 years or older, and 36 (72.00%) were male. The observed number of cancer diagnoses corresponded to an incidence rate of 5.63%, with a standardized incidence ratio (SIR) of 2.83 (95% confidence interval [CI]: 1.89–4.39) compared to the expected cancer incidence rate of 2.00%. Notably, the SIR for malignancies of lymphoid, hematopoietic, and related tissues, excluding malignant immunoproliferative diseases, multiple myeloma, and plasma cell neoplasms (C81-96, except C88 and C90), was the highest at 8.51 (95% CI: 4.18–19.83).ConclusionOur study shows a potential association between CIDP and an increased risk of hematological malignancies, which is consistent with previous investigations. Further studies are required to better understand the relationship between CIDP and cancer.

Key Clinical Message Patients affected by chronic inflammatory demyelinating polyradiculoneuropathy require close follow up due to the neuronal demyelination along with axonal degeneration associated with the disease process, giving the opportunity to the medical team of adequating therapeutics and other medical interventions, according to the evolution of the symptoms, to prevent irreversible axonal degeneration.

Peripheral neuropathy is a prevalent complication in plasma cell disorders, posing significant diagnostic and therapeutic challenges. This study presents three cases initially diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP). Despite initial symptom regression post-immunomodulatory treatment, the patients exhibited progressive neurological deficits. Advanced laboratory evaluation confirmed monoclonal protein presence, yet traditional diagnostic methods, including bone marrow biopsy and flow cytometry, yielded normal results. Utilizing 18F-FDG PET/CT, we identified multiple hypermetabolic vertebral lesions, which upon biopsy, confirmed the diagnosis of plasmacytoma. Our findings underscore the utility of PET/CT as a reliable diagnostic tool for monoclonal gammopathy associated neuropathy, advocating for its consideration in cases with equivocal diagnosis. When the diagnosis is in doubt, biopsy of a lesion may facilitate early and accurate diagnosis, potentially influencing treatment strategies and patient outcomes.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated neuropathy. While CIDP typically affects the peripheral nerves in the limbs, involvement of cranial nerves is atypical, and cases of muscle atrophy secondary to cranial nerve involvement are exceptionally rare. A 30-year-old female patient, who complained of numbness and weakness in her limbs, was diagnosed with CIDP after experiencing atrophy of the tongue and sternocleidomastoid muscles, along with tongue muscle fibrillation during a neurological examination. Additionally, the patient had hypothyroidism caused by Hashimoto's thyroiditis. Cerebrospinal fluid tests indicated albumincytological dissociation. Electrophysiological examination results confirmed the diagnosis of typical CIDP. Glucocorticoid treatment, a standard therapy for CIDP, led to a significant improvement in the patient's symptoms, including the regeneration of her tongue muscles. A literature review revealed only eight cases of CIDP with hypoglossal nerve involvement, and this case represents the first documentation of concurrent sternocleidomastoid muscle atrophy. Although muscle atrophy from cranial nerve involvement is infrequent in CIDP, the positive response to treatment is encouraging.

Summary: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare, immune-mediated disorder in which an aberrant immune response causes demyelination and axonal damage of the peripheral nerves. Genetic contribution to CIDP is unclear and no genome-wide association study (GWAS) has been reported so far. In this study, we aimed to identify CIDP-related risk loci, genes, and pathways. We first focused on CIDP, and 516 CIDP cases and 403,545 controls were included in the GWAS analysis. We also investigated genetic risk for inflammatory polyneuropathy (IP), in which we performed a GWAS study using FinnGen data and combined the results with GWAS from the UK Biobank using a fixed-effect meta-analysis. A total of 1,261 IP cases and 823,730 controls were included in the analysis. Stratified analyses by gender were performed. Mendelian randomization (MR), colocalization, and transcriptome-wide association study (TWAS) analyses were performed to identify associated genes. Gene-set analyses were conducted to identify associated pathways. We identified one genome-wide significant locus at 20q13.33 for CIDP risk among women, the top variant located at the intron region of gene CDH4. Sex-combined MR, colocalization, and TWAS analyses identified three candidate pathogenic genes for CIDP and five genes for IP. MAGMA gene-set analyses identified a total of 18 pathways related to IP or CIDP. Sex-stratified analyses identified three genes for IP among males and two genes for IP among females. Our study identified suggestive risk genes and pathways for CIDP and IP. Functional analyses should be conducted to further confirm these associations.

This article provides information on the diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a rare immune-mediated neuropathy. It discusses the challenges in diagnosing CIDP when there is no clear evidence of demyelination and presents a study that explores the response to treatment in these cases. The article emphasizes the importance of early recognition and treatment of CIDP to prevent disability, while also acknowledging the risks of overdiagnosis and unnecessary treatment. It concludes that treatment decisions should be based on a physician's assessment of the patient's clinical presentation and the severity of symptoms. The document also includes a list of references to scientific articles that discuss various aspects of CIDP, providing further information for those conducting research on the topic. [Extracted from the article]

We present a boy with X-linked adrenoleukodystrophy (X-ALD) who was found to have lumbar nerve root enhancement on a screening MRI of the spine. The MRI was performed for lower extremity predominant symptoms. Several weeks after this MRI, he developed leg pain and was averse to walking long distances. He was diagnosed with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) with electromyography, nerve conduction studies, and serial imaging. His case is consistent with CIDP in association with X-ALD based on improvement with intravenous immunoglobulin (IVIG) with continued contrast enhancement and lower extremity symptoms 8 weeks after his initial scans. Contrast enhancement of nerve roots has not been previously described in X-ALD. Nerve root enhancement has been seen in other leukodystrophies such as globoid cell leukodystrophy and metachromatic leukodystrophy. This case also demonstrates comorbid X-ALD with CIDP and highlights possible mechanisms from the literature for this association. We also review the broad differential of cauda equina nerve root enhancement.

Objective: The objective of the study is to evaluate the chronic inflammatory demyelinating polyneuropathy (CIDP) clinical spectrum in a cohort of Mexican patients who benefit from social security. Methods: A retrospective study of CIDP patients from 2010 to 2021. We documented neurological deficits, electrophysiological and laboratory parameters, diagnostic characteristics, disease activity, and clinical outcomes. Results: 36 cases met the criteria of the EAN/PNS 2021, the mean age was 58.25 ± 10.10 years, 50% were women, and 69.4% used intravenous immunoglobulin (IVIG). Concerning functional status, 63.9% had an independent walk and 86.1% had mild weakness in manual skills. The analysis of functional status showed better results in the IVIG treatment group. Conclusions: Similar to previous literature reports, 50% of our patients had stable active disease. Considering the heterogeneity of the disease, more research about treatment initiation and long-term results is warranted. [ABSTRACT FROM AUTHOR]

Background: Refractory chronic inflammatory demyelinating polyneuropathy (CIDP) is a challenging subset of CIDP. It does not respond well to immune therapy and causes substantial disability. A comprehensive understanding of its clinical profile, electrophysiological characteristics and potential risk factors associated with refractoriness remains to be further elucidated. Methods: Data in this cross-sectional study was collected and reviewed from the Huashan Peripheral Neuropathy Database (HSPN). Included patients were categorized into refractory CIDP and non-refractory CIDP groups based on treatment response. The clinical and electrophysiological characteristics were compared between refractory and non-refractory CIDP groups. Potential risk factors associated with refractory CIDP were explored with a multivariate logistic regression model. Results: Fifty-eight patients with CIDP were included. Four disease course patterns of refractory CIDP are described: a relapsing-remitting form, a stable form, a secondary progressive form and a primary progressive form. Compared to non-refractory CIDP patients, refractory CIDP exhibited a longer disease duration (48.96 ± 33.72 vs. 28.33 ± 13.72 months, p = 0.038) and worse functional impairment (MRC sum score, 46.08 ± 12.69 vs. 52.81 ± 7.34, p = 0.018; mRS, 2.76 ± 0.93 vs. 2.33 ± 0.99, p = 0.082; INCAT, 3.68 ± 1.76 vs. 3.03 ± 2.28, p = 0.056, respectively). Electrophysiological studies further revealed greater axonal impairment (4.15 ± 2.0 vs. 5.94 ± 2.77 mv, p = 0.011, ulnar CMAP) and more severe demyelination (5.56 ± 2.86 vs. 4.18 ± 3.71 ms, p = 0.008, ulnar distal latency, 7.94 ± 5.62 vs. 6.52 ± 6.64 ms, p = 0.035, median distal latency; 30.21 ± 12.59 vs. 37.48 ± 12.44 m/s, p = 0.035, median conduction velocity; 58.66 ± 25.73 vs. 42.30 ± 13.77 ms, p = 0.033, median F-wave latency), compared to non-refractory CIDP. Disease duration was shown to be an independent risk factor for refractory CIDP (p < 0.05, 95%CI [0.007, 0.076]). Conclusion: This study provided a comprehensive description of refractory CIDP, addressing its clinical features, classification of clinical course, electrophysiological characteristics, and prognostic factors, effectively elucidating its various aspects. These findings contribute to a better understanding of this challenging subset of CIDP and might be informative for management and treatment strategies. [ABSTRACT FROM AUTHOR]

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated disorder affecting the peripheral nervous system. Despite the established diagnostic criteria, monitoring disease activity and treatment remains challenging. To address this limitation, we investigated serum neurofilament light chain (sNfL) and serum free light chains (sFLCs) as potential biomarkers. A total of 32 CIDP patients undergoing immunoglobulin therapy and 32 healthy controls enrolled in the present study, and agreed to have their blood plasma sNfL and sFLCs analyzed, while CIDP severity was assessed through the modified Rankin Scale (mRS) and the Overall Neuropathy Limitations Scale (ONLS). In line with the immunoglobulin treatment aimed at limiting neuronal damage administered to the majority of patients, sNfL levels did not exhibit significant differences between the two groups. However, CIDP patients showed significantly elevated sFLC and sFLC ratios, while the marker levels did not correlate with the clinical scores. The study confirms the potential of sFLCs as a sensitive biomarker of inflammatory processes in CIDP. Additionally, the present study results regarding neurofilaments strengthen the role of sNfL in monitoring CIDP treatments, confirming the effectiveness of immunoglobulin therapy. Overall, our results demonstrate how combining these markers can lead to better patient characterization for improved treatment. [ABSTRACT FROM AUTHOR]

COVID-19 vaccination side effects have been increasingly reported, including new-onset autoimmune diseases such as chronic arthritis, thrombocytopenia, Guillain-Barré syndrome (GBS), and more recently chronic inflammatory demyelinating polyneuropathies (CIDP). Molecular mimicry and vaccine adjuvants appear to be important contributors to immune-mediated neuropathies. However, whether the link between the COVID-19 vaccine and these autoimmune disorders is coincidental or causal remains uncertain. We describe the ever-reported case of acute-onset CIDP following the Oxford/AstraZeneca vaccine in Tunisia. The patient is a 41-year-old man who presented with acute, worsening weakness of the four limbs. The symptoms appeared 15 days after his first dose of the AstraZeneca vaccine. The diagnosis of GBS was initially confirmed according to the clinical features, the albumino-cytological dissociation in the cerebrospinal fluid (CSF), and the electroneuromyography (ENMG) findings. Serum workup for all known infections associated with immune-mediated neuropathy was negative. The patient was treated with plasma exchange without initial improvement followed by aggravation of the symptomatology after an interval of four and a half months. Control ENMG showed signs of CIDP meeting the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) criteria of 2021. The patient was treated with maintenance intravenous immunoglobulin and oral corticosteroids. Neurological examination 3 months after discharge showed partial improvement. Worldwide, cases of demyelinating polyneuropathies post-COVID-19 vaccination are increasingly reported. The acute onset of CIDP might lead to a misdiagnosis of GBS. Awareness of this complication and distinction from GBS enables early relay with maintenance treatment to prevent relapses and severe complications. Post-COVID neuropathies are found to be more frequently linked to the AstraZeneca vaccine, however, temporal association does not confirm causal association. [ABSTRACT FROM AUTHOR]

Chronic inflammatory demyelinating polyneuropathy (CIDP), a common and treatable autoimmune neuropathy, is frequently misdiagnosed. The aim of this study is to evaluate the relationship between immunological markers and clinical outcome measures in a mixed cohort of patients with typical CIDP and CIDP variants at different disease stages. Twenty-three typical, 16 multifocal and five distal CIDP patients were included. Twenty-five sex and age-matched healthy controls and 12 patients with Charcot–Marie–Tooth type 1A (CMT1A) disease served as controls. Peripheral B-cell populations were analyzed by flow cytometry. IL6, IL10, TNFA mRNA and mir-21, mir-146a, and mir-155-5p expression levels were evaluated by real-time polymerase chain reaction in peripheral blood mononuclear cells (PBMC) and/or skin biopsy specimens. Results were then assessed for a possible association with clinical disability scores and intraepidermal nerve fiber densities (IENFD) in the distal leg. We detected a significant reduction in naive B cells (P ≤ 0.001), plasma cells (P ≤ 0.001) and regulatory B cells (P < 0.05), and an elevation in switched memory B cells (P ≤ 0.001) in CIDP compared to healthy controls. CMT1A and CIDP patients had comparable B-cell subset distribution. CIDP cases had significantly higher TNFA and IL10 gene expression levels in PBMC compared to healthy controls (P < 0.05 and P ≤ 0.01, respectively). IENFDs in the distal leg showed a moderate negative correlation with switched memory B-cell ratios (r = –0.51, P < 0.05) and a moderate positive correlation with plasma cell ratios (r = 0.46, P < 0.05). INCAT sum scores showed a moderate positive correlation with IL6 gene expression levels in PBMC (r = 0.54, P < 0.05). Altered B-cell homeostasis and IL10 and TNFA gene expression levels imply chronic antigen exposure and overactivity in the humoral immune system, and seem to be a common pathological pathway in both typical CIDP and CIDP variants. B-cell homeostasis is significantly altered in chronic inflammatory demyelinating polyneuropathy (CIDP) and is not reversed by immunomodulatory treatments. Charcot–Marie–Tooth type 1A has a comparable B-cell subset distribution with CIDP. Peripheral blood switched memory B-cell ratios correlate negatively with the severity of peripheral nerve damage in CIDP, whereas IL6 gene expression levels show a positive correlation. [ABSTRACT FROM AUTHOR]

Background and purpose: It is not known whether the route of administration affects the mechanisms of action of therapeutic immunoglobulin in chronic inflammatory demyelinating polyneuropathy (CIDP). The aim of this study, therefore, was to compare the immunomodulatory effects of intravenous (IVIg) and subcutaneous immunoglobulin (SCIg) in patients with CIDP and in IVIg‐treated common variable immunodeficiency (CVID) patients. Methods: Serum and peripheral blood mononuclear cell samples were obtained from 30 CIDP patients receiving IVIg, 10 CIDP patients receiving SCIg, and 15 patients with CVID receiving IVIg. Samples and clinical data were obtained prior to IVIg/SCIg and at 3 days, 7 days, and, in CIDP patients receiving IVIg, 21 days post‐administration. Serum cytokines were assessed by Luminex‐based multiplex assay and enzyme‐linked immunosorbent assay. Immune cells were characterized by flow cytometry. Results: Immune cell profiles of CIDP and CVID patients differed in frequencies of myeloid dendritic cells and cytotoxic natural killer cells. During treatment with IVIg or SCIg in CIDP patients, cellular immunomarkers were largely similar. CIDP patients receiving IVIg had higher macrophage inflammatory protein (MIP)‐1α (p = 0.01), interleukin (IL)‐4 (p = 0.04), and IL‐33 (p = 0.04) levels than SCIg recipients. IVIg treatment more broadly modulated cytokines in CIDP than SCIg treatment. Conclusions: Our study demonstrates that the modulation of cellular immunomarkers in CIDP is independent of the application route of therapeutic immunoglobulin. Minor differences were observed between CIDP and CVID patients. In contrast, cytokines were differentially modulated by IVIg and SCIg in CIDP. [ABSTRACT FROM AUTHOR]

Introduction: Serum neurofilament light chain (sNfL) is a marker for axonal degeneration. Patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) often report a fluctuation of symptoms throughout one treatment cycle with intravenous immunoglobulins (IVIG). The aim of this study was to determine whether sNfL is suitable to quantify patient‐reported symptom fluctuations. Method s : Twenty‐nine patients with the diagnosis of CIDP or a CIDP‐variant under treatment with IVIG were recruited in this study and underwent examination before IVIG infusion, in the middle of the treatment interval, and before their next IVIG infusion. Patients were surveyed regarding symptom fluctuations at the last visit and divided into two groups: those with and without fluctuations of symptoms. At the first visit, sociodemographic and disease‐specific data were collected. Clinical scores were assessed at every examination. sNfL values were compared between both groups at the different time points after conversion into Z‐scores—adjusted for age and body mass index. Results: Patients with CIDP show elevated sNfL Z‐scores (median at baseline: 2.14, IQR: 1.0). There was no significant change in sNfL Z‐scores or questionnaire scores within the treatment cycle in either group. There was no significant difference in sNfL levels between the patients with and without symptom fluctuations. Conclusions: CIDP patients show elevated sNfL levels. However, sNfL is not suitable to reflect patient‐reported fluctuations of symptoms. This indicates that symptom fluctuations during treatment with IVIG in patients with CIDP are not caused by a neuroaxonal injury. Furthermore, repeated sNfL measurements within one treatment cycle with IVIG seem to have no benefit for symptom monitoring. [ABSTRACT FROM AUTHOR]

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Immune-mediated peripheral neuropathies are heterogeneous group of disorders due to the present of autoantibodies against peripheral nerve molecules located in node of Ranvier such as gangliosides and cell adhesion proteins or myelin components of peripheral nerves. Although the exact aetiology and pathophysiological mechanisms involved are not fully understood, both humoral and cellular immunity are likely playing a role in their pathogenesis. A proportion of patients present with clinical phenotype of rapidly progressive neuropathy refractory to conventional therapies but are lacking in identifiable or detectable antibodies. This makes diagnosis and treatment decision challenging.We illustrate a patient with rapidly progressive seronegative immune-mediated neuropathy resembling autoimmune nodopathy (AN) associated with atypical features (prominent ataxia) and cranial involvement (facial and oropharyngeal weakness, dysgeusia), refractory to conventional therapies (IV immunoglobulin and corticosteroids) but responded to ‘remove and suppress’ treatment regime using therapeutic plasma exchange (TPE), followed by long-term B-cell suppressive therapy.

A 19-year-old man presented with recurrent intermittent fever, progressive limbs weakness, numbness, and atrophy for 5 years. Biopsy of the sural nerve, spleen, lymph nodes, bone marrow and labial gland revealed that monomorphic small lymphoid cells infiltrated diffusely and that there was severe loss of large myelinated nerve fibers. Immunohistochemically, these cells were mainly CD8-positive T cells and were positive for CD3 and CD57. This patient was diagnosed as indolent CD8-positive T lymphoproliferative disorder (indolent CD8-positive T-LPD), emphasizing the need for a broad differential diagnosis under these conditions, and nerve biopsy should be performed.

BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise secondary to diaphragmatic and vocal cord paralysis. BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group. Early administration of riboflavin is associated with prolonged survival, low morbidity, and reversal of some clinical manifestations.Case presentationWe describe an 18-month-old male infant with progressive pontobulbar palsy, loss of developmental milestones, and a clinical picture suggestive of chronic inflammatory demyelinating neuropathy. A nerve conduction study revealed axonal neuropathy, while molecular analysis revealed a homozygous mutation in one of the riboflavin transporter genes, SLC52A3, confirming BVVL syndrome. The patient needed long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he experienced moderate recovery of motor function.ConclusionThis report highlights the importance of considering BVVL syndrome in any patient who presents with the clinical phenotype of pontobulbar palsy and peripheral axonal neuropathy, as early riboflavin treatment may improve or halt disease progression, thus reducing the associated mortality and morbidity.

Introduction. Neurological manifestations secondary to Hymenoptera stings are rare. However, the literature describes cases of severe central and peripheral nervous system damage. Suspected pathophysiological mechanisms include hypoxic-ischemic damage, demyelination, and the direct neurotoxic effect of venoms. In this context, bee stings could be a possible atypical causative factor for Guillan–Barré syndrome and chronic inflammatory demyelinating polyneuropathy. Case report. We present the case of a 32-year-old patient who declared the presence of a bee sting two weeks before the onset of neurological manifestations (flaccid quadriparesis, predominantly distal, with paresthesia at the same level) that were initially diagnosed as a Guillain Barré syndrome. Despite the treatment with immunoglobulins in the acute phase, the worsening of the motor deficit after one month required a new course of immunoglobulins, associating corticosteroids, with initially favorable evolution. However, the presence of a new relapse after eight weeks, correlated with changes such as albumin-cytological dissociation in the examination of the cerebrospinal fluid and the appearance of active denervation on the electroneuromyography study, established the final diagnosis of chronic inflammatory demyelinating polyneuropathy. Conclusions. We consider the presented case proof of the relationship between the Hymenoptera sting and various peripheral nervous system pathologies. Inflammatory and demyelinating changes common to Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy appear to be the primary pathophysiological mechanism to explain this uncommon correlation.

Introduction. Chronic inflammatory demyelinating polyneuropathy (CIDP) is characterized by long-term progressive or relapsing course, neurological deficit, and disability of varied severity. The course of CIDP after specific therapy and, if necessary, long-term maintenance treatment are to be studied. Objective: To evaluate CIDP clinical and history characteristics over the long-term follow-up ( 5 years), to compare long-term CIDP course in a number of clinical variants and onset types, and to determine clinical predictors of unfavorable CIDP course. Materials and methods. The study included 45 patients diagnosed with CIDP based on EAN/PNS 2021 criteria lasting for 5 or more years. Retrospective collection and analysis of medical records and clinical history were performed. Internationally accepted scales were used to assess neurological deficit (NIS, MRCss), disability (INCAT), and disease activity status (CDAS). The criteria of unfavorable course were developed to evaluate factors affecting CIDP course. Results. Among the patients with CIDP history of 5 years, each third (34%) had no neurological deficit and remained in long-term clinical remission (CDAS 1). The vast majority (90%) responded to first-line therapy in early disease, while only 53% of patients required maintenance treatment in 5 or more years of the onset. With the developed criteria (poor response to glucocorticosteroids (GCS), need for maintenance therapy, and CDAS 3–5), unfavourable CIDP course was detected in 24 (53.3%) participants. Its probability increased in later onset (47 [30; 50] years), the chronic type of onset, and delayed specific therapy. The most significant predictors included low total NIS score at onset (60 points) and multifocal CIDP. Conclusions. The course of typical CIDP is relatively favorable if timely diagnosed, and pathogenetic treatment initiated. Patients with acute and subacute onset demonstrate the best long-term status. The predictors of unfavourable disease course include mild neurological deficit at onset (NIS total score 60 points) and multifocal CIDP.

Background: Biomarkers for diagnosis of inflammatory neuropathies, assessment of prognosis, and treatment response are lacking. Methods: CSF and EDTA plasma from patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), healthy controls (HC) and disease controls were analyzed with Olink multiplex proximity extension assay (PEA) from two independent cohorts. Levels of interleukin-8 (IL8) were further analyzed with ELISA in patients with GBS, CIDP, paraproteinemia-related demyelinating polyneuropathy (PDN), multifocal motor neuropathy (MMN), HC and disease controls. ROC analysis was performed. Outcome was measured with the GBS-disability score (GBS-ds) or Inflammatory Neuropathy Cause and Treatment (INCAT) score. Results: In CSF, multiplex PEA analysis revealed up-regulation of IL8 in GBS compared to CIDP and HC respectively, and CIDP compared to HC. In addition, levels of IL2RA were upregulated in GBS compared to both HC and CIDP, SELE in GBS compared to HC, and ITGAM, IL6, and NRP1 in GBS compared to CIDP. In plasma, levels of MMP3, THBD and ITGAM were upregulated in CIDP compared to HC. Validation of multiplex IL8 results using ELISA, revealed increased levels of IL8 in CSF in patients with GBS and CIDP versus HC and non-inflammatory polyneuropathies (NIP) respectively, as well as in PDN versus NIP and HC. Levels of IL8 in CSF correlated with impairment in the acute phase of GBS as well as outcome at 6-months follow up. Conclusion: IL8 in CSF is validated as a diagnostic biomarker in GBS and CIDP, and a prognostic biomarker in GBS. Multiplex PEA hereby identifies several potential biomarkers in GBS and CIDP. [ABSTRACT FROM AUTHOR]

Abstract—Polyneuropathies are a heterogeneous group of immune-mediated diseases, among which Guillain–Barré syndrome and chronic inflammatory demyelinating polyneuropathy are the most frequent. On the contrary, amyotrophic lateral sclerosis is most often considered as a disease, whose development is practically not associated with changes in the function of the immune system. This review summarizes the latest data on changes in the T-lymphocyte subpopulations and their function in the blood and cerebrospinal fluid in the aforementioned diseases. These data suggest that regulatory T cells and NKT cells may play an important role in the development of the discussed pathologies. We stress the necessity of accumulation and analysis of data on T-cell subpopulations, as well as the sequence of T-cell receptors, HLA, and CD1 in patients for the development of approaches to the diagnosis and possible therapy of these diseases. [ABSTRACT FROM AUTHOR]