Case Report: Application of 18F-FDG PET/CT in identifying plasmacytoma in monoclonal gammopathy associated peripheral neuropathy.

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.

Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis.

BACKGROUND: Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition with a wide range of genotype/phenotype presentations. It is frequently diagnosed late in its course, particularly in sporadic cases. OBJECTIVES: Analysing predictors of diagnostic delay in this subpopulation should be, therefore, a priority. METHODS: 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (ULS Santa Maria-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. Diagnostic delay was compared between different decades with a Kruskal-Wallis test, and its predictors were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. RESULTS: The median diagnostic delay was 1262 days. There was a non-significant difference in diagnostic delay between the 80 s, 90 s, 2000s and 2010s decades. There was a non-significant trend for a longer diagnostic delay in woman and in patients having no neurologic symptoms at onset. CONCLUSION: There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.

The efficacy of botulinum toxin in neuropathic pain: a systematic review.

Introduction: Neuropathic pain (NP) is characterised as a lesion or disease directly affecting the somatosensory system. This study aims to analyse the efficacy of botulinum toxin type A (BT-A) in the treatment of neuropathic pain. Methods: This systematic literature review, guided by PRISMA, applied the PICO strategy with the following criteria: (P = patients with neuropathic pain, I = botulinum toxin, C = placebo or active drug, and O = pain relief). Results: Fourteen articles, all randomised controlled trials with a placebo control, were included in the review. A total of 645 patients were randomised, with 353 patients receiving treatment with botulinum toxin type A in doses ranging from 25U to 400U. The evaluated studies addressed trigeminal neuralgia, diabetic polyneuropathy, post-herpetic neuralgia, spinal cord injury, phantom limb pain, and peripheral neuropathic pain after trauma or surgery. Conclusion: BT-A has emerged as a promising treatment for various origins of neuropathic pain. Therefore, future studies should adopt stricter criteria regarding dosage and routes of administration to ensure effective and consistent BT-A application.

Use of Ketamine in Patients with Multifactorial Neuropathic Pain: A Systematic Review and Meta-Analysis.

Neuropathic pain (NP) is a heterogeneous group of conditions characterized by the experience of a number of sensory disturbances including pain, burning sensations, paroxysms of stabbing pain, dysesthesias, allodynia, and hyperalgesia. The above-mentioned sensations may occur in a specific dermatome area or other delimited region of the body. The objective of this review was to analyze the evidence for ketamine in multifactorial neuropathic pain. The research group systematically searched the databases MEDLINE (via PubMed), EMBASE, SCOPUS, the Cochrane Central Register of Controlled Trials, the Cumulative Index to Nursing and Allied Health Literature (Cinahl), and the Web of Science. The findings of this review show that different forms of low doses of ketamine (LDK) do not present statistically significant changes for any of the scales included. In this study, the total symptom score [standardized mean difference (SMD) = -3.59, confidence interval (CI) = -4.16 to -3.02, and p < 0.00001], neuropathy impairment score (SMD = -1.42, CI = -3.68 to 0.84, and p = 0.22), and neuropathy symptom checklist (SMD = -0.09, CI = -0.15 to -0.02, and p = 0.01) were taken into account. For finality compared to the use of a placebo, the findings suggest that LDK does not exhibit significant differences in terms of pain reduction and functionality. Moreover, no specific dosages are identified to support the use of LDK in the reduction in NP.

Sero-Positive Isolated Ocular Myasthenia Gravis.

Ocular myasthenia gravis (OMG) is a neuromuscular disease characterized by the production of autoantibodies against post-synaptic proteins at the neuromuscular junction (NMJ). An 18-year-old male who had symptoms of drooping eyelids and double vision was diagnosed with ocular myasthenia gravis on investigations and examinations. Treatment was initiated with a tablet of pyridostigmine 60 mg twice daily per oral for two weeks, followed by three times daily for four weeks. The patient demonstrated significant improvement in ptosis and diplopia. There are still a considerable number of challenges in the diagnosis and treatment of ocular myasthenia gravis, with the typical treatment involving acetylcholinesterase inhibitors and immunosuppressants.

An inherited genetic variant of the CEP72 gene is associated with the development of vincristine-induced peripheral neuropathy in female patients with aggressive B-cell lymphoma.

Vincristine-induced peripheral neuropathy (VIPN) is an adverse effect of regimens used for the treatment of aggressive B-cell non-Hodgkin lymphoma (B-NHL). A single-nucleotide polymorphism (SNP) in the promotor region of the CEP72 gene has been identified as risk factor for the development of VIPN in children. To validate these results in adults we aimed to determine the association of the high-risk CEP72 (rs924607 TT genotype) with the occurrence and severity of VIPN. Analysis of SNP rs924607 (TT, CC or CT) was performed in all enrolled patients with available blood samples with a TaqMan genotyping assay. Rates and grades of VIPN were assessed prospectively as part of the RICOVER-60 trial. CEP72 genotype could be assessed in 519 patients. VIPN data was available for 499/519 patients who were included in the final analysis. 286 (57%) patients developed VIPN of any grade during treatment. Grade 2-4 VIPN occurred in 33% (166/499) of patients. The high-risk CEP72 TT genotype at rs924607 was identified in 97/499 (19%) patients. The TT genotype was not correlated with VIPN in the overall study population compared to patients with either CC or CT genotypes (p = 0.748). However, in the subgroup of female patients, the TT genotype was associated with increased occurrence of any-grade VIPN as well as grade 2-4 VIPN as compared to patients with either CC or CT genotypes (p = 0.016 and p = 0.020, respectively). Thus, the SNP rs924607 in the CEP72 gene is associated with increased VIPN incidence in female patients with aggressive B-NHL treated with CHOP chemotherapy. Trial registration ClinicalTrials.gov identifier: NCT00052936, submission date: 2005-06-23, EudraCT Number: 2010-019587-36.

Internalization of extracellular vesicles of cancer patients by peripheral blood mononuclear cells during polychemotherapy: connection with neurotoxicity.

Extracellular vesicles (EVs), exhibiting their functional activity after internalization by recipient cells, are involved in the pathogenesis of drug-induced polyneuropathy (DIPN), a common complication of antitumor therapy. In this work, the internalization of EVs obtained from colorectal cancer patients undergoing polychemotherapy and its relationship with neurotoxicity were assessed using a model system of mononuclear leukocytes. Circulating EVs were isolated from 8 colorectal cancer patients who received antitumor therapy according to the FOLFOX or XELOX regimens before the start of chemotherapy (point 1) and after 3-4 courses (point 2). Mononuclear leukocytes of a healthy donor served as a cellular model system for EV internalization in vitro. EV internalization was assessed using fluorescence microscopy. It was shown that internalization of EVs obtained from colorectal cancer patients with high neurotoxicity was higher than in the group with low neurotoxicity. The ability of CD11b-positive (CD11b⁺) and CD11b-negative (CD11b⁻) mononuclear leukocytes of a healthy donor to internalize EVs obtained from patients before and after chemotherapy did not reveal significant differences. A direct relationship was found between the relative number of CD11b⁻ cells with internalized EVs and the integral index of neurotoxicity according to the NRS scale at the peak of its manifestation (point 2) (r=0.675, p.

Symptoms of Hereditary Transthyretin Amyloidosis: The Patient and Physician Perspective.

This article has been co-authored by a patient living with hereditary transthyretin (ATTRv) amyloidosis and a neurologist. This rare, progressive disease is associated with impairment of multiple organ systems, including the nerves, heart, and the gastrointestinal tract, forcing patients to live with and adapt to a range of debilitating symptoms. Here, the patient and physician discuss how the symptoms of ATTRv amyloidosis profoundly impact day to day life, the difficulties with identifying the disease, and how this effects the diagnosis experience. In recent years, significant advancements have been made in the treatment and management of ATTRv amyloidosis. However, the authors highlight the urgency of increasing awareness of the disease among the wider medical community, as well as in patients who notice the symptoms, to ensure that earlier diagnosis and appropriate treatment are achieved.

Effects of robot exoskeletal-assisted gait training on gait ability in a pediatric patient with peripheral polyneuropathy: a case report.

[Purpose] This study aims to investigate the effects of robotic exoskeleton-assisted gait training on a pediatric patient with peripheral polyneuropathy. [Participant and Methods] A 10-year-old boy with lower extremity weakness attributed to peripheral polyneuropathy underwent a two-week program comprising 10 rehabilitation sessions of powered robotic exoskeleton-assisted gait training (REGT). He was evaluated before and after treatment using the 10-meter walk test, 6-minute walk test, Berg Balance Scale, the Timed Up and Go Test, the Functional Reach Test, the Modified Functional Reach Test, hip and knee flexion/extension angles, and cardiopulmonary exercise testing. [Results] The patient demonstrated improved gait speed, balance, joint mobility, cadence, the maximum oxygen consumption and metabolic equivalents after the REGT. [Conclusion] Robotic exoskeleton devices could provide additional benefits to pediatric patients with peripheral polyneuropathy, pending larger studies to confirm the significance of treatment.

Intersecting Pathologies: A Case Report on the Co-presentation of Quasi-Moyamoya Disease and Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes (POEMS) Syndrome.

Moyamoya disease (MMD) is a rare chronic vasculopathy characterized by progressive stenosis of the internal carotid arteries and the formation of fragile collateral vessels in the brain. Polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome with a complex presentation that includes polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes. Here, we report a unique case of a 54-year-old male with MMD presenting with recurrent speech loss and mumbling, later diagnosed with POEMS syndrome. Initial imaging revealed Moyamoya vasculopathy, confirmed by computed tomographic angiography (CTA) and magnetic resonance imaging (MRI). Further examination revealed polyneuropathy, organomegaly, and elevated vascular endothelial growth factor (VEGF), meeting the diagnostic criteria for POEMS syndrome. The patient was treated with a cyclophosphamide-bortezomib-dexamethasone regimen, followed by the addition of daratumumab, resulting in clinical improvement. This case highlights the importance of thorough diagnostics and a multidisciplinary treatment approach for patients with complex comorbidities, emphasizing the need for early detection and targeted therapy in managing dual pathologies of MMD and POEMS syndrome.

Idiopathic Distal Sensory Polyneuropathy and Fibromyalgia Syndrome: A Comparative Phenotyping Study.

INTRODUCTION: Painful idiopathic distal sensory polyneuropathy (IDSP) and fibromyalgia syndrome (FMS) are cryptogenic chronic pain syndromes. The contribution of small fibre pathology (SFP) in FMS remains controversial. This study aims to quantify small nerve pathology in participants with IDSP and FMS and identify relationships of SFP with sensory phenotypes. METHODS: In this study, 73 individuals (FMS: 25, IDSP: 23, healthy volunteers: 25) underwent comprehensive assessment, including neurological exams, questionnaires, sensory tests, and corneal confocal microscopy. RESULTS: IDSP participants displayed lower wind-up ratio (WUR) relative to FMS (p < 0.001), loss of function to thermal and mechanical stimuli and elevated neuropathy disability scores compared to FMS and healthy volunteers (all p < 0.001). FMS participants demonstrated gain of function to heat and blunt pressure pain responses relative to IDSP, and healthy volunteers (heat: p = 0.002 and p = 0.003; pressure: both p < 0.001) and WUR (both p < 0.001). FMS participants exhibited reduced corneal nerve fibre density (p = 0.02), while IDSP participants had lower global corneal nerve measures (density, branch density, and length) relative to healthy volunteers (all p < 0.001). Utilising corneal nerve fibre length, SFP was demonstrated in 66.6% of participants (FMS: 13/25; IDSP: 22/23). CONCLUSION: Participants with SFP, in both FMS and IDSP, reported symptoms indicative of small nerve fibre disease. Although distinctions in pain distributions are evident between individuals with FMS and IDSP, over 50% of participants between the two conditions displayed both a loss and gain of thermal and mechanical function suggestive of shared mechanisms. However, sensory phenotypes were associated with the presence of SFP in IDSP but not in FMS.

In people with painful idiopathic neuropathy (pain related to nerve damage where the cause of nerve damage is unknown), fibromyalgia syndrome (a long-term condition causing widespread pain), and healthy volunteers, the small nerve fibres of the peripheral nervous system, which may be involved in generating pain were assessed. These nerve fibres can be measured at the front of the eye (cornea) which can provide details on whether they are damaged in the body. The response to temperature, light touch, pressure and pinprick stimuli can also be used to determine if there is a loss or gain of sensation, which may contribute to pain. The aim of this study was to identify the degree of damage to these nerve fibres and to determine whether this damage is associated with a loss (cannot feel or requires more intense stimulus to feel) or gain (stimulus is felt earlier or is painful earlier at lower intensity) of sensory function. The pattern of loss or gain in sensory function is known as a sensory phenotype. It was found that people with painful idiopathic neuropathy had more severe nerve damage, loss of function to temperature and touch, and fewer small nerve fibres in the cornea compared to those with fibromyalgia syndrome and healthy volunteers. People with fibromyalgia syndrome were more sensitive to heat and pressure and had fewer corneal nerve fibres relative to healthy volunteers. The presence of corneal nerve fibre damage was associated with sensory phenotypes (types of sensation felt) in painful idiopathic neuropathy but not in fibromyalgia syndrome.

Dietary phytochemical index and its relationship with diabetic sensorimotor polyneuropathy: a case-control study.

Phytochemicals are compounds found in fruits, vegetables, whole grains, nuts and legumes that are non-nutritive but have bioactive properties. A high intake of these compounds is essential for optimal health and disease prevention. No study has investigated the association between Dietary Phytochemical Index (DPI) and polyneuropathy in patients with diabetes. This study aimed to examine the association between DPI and Diabetic Sensory-motor Polyneuropathy (DSPN) in a case-control study. In this case-control study, a total of 185 diabetic patients with DSPN (case group) and 185 sex- and age-matched diabetic patients without neuropathy (control group) were enrolled in this study. Participants were 30-60 years old. A validated food frequency questionnaire was used to measure the dietary intake of all participants. Daily energy derived from phytochemical-rich foods was used to calculate the DPI score. Toronto clinical neuropathy score was applied to define DSPN. Anthropometric data and fasting blood glucose levels were measured using standard methods. The Binary logistic regression was used to estimate Crude and multivariable-adjusted OR (95% CI) for DSPN across tertiles of DPI for the whole population. In the crude model, there was a significant trend across the tertile of DPI (OR highest vs. lowest tertile of DPI = 0.33; 95%CI 0.18, 0.52; P-trend < 0.001). After controlling for age, sex, and energy, a significant reverse association was observed between DPI and DSPN (OR highest vs. lowest tertile of DPI = 0.27; 95%CI 0.15, 0·48; P-trend < 0.001). Moreover, after adjusting for a wide range of confounding variables such as energy intake, physical activity, education, smoking status, and HbA1c, participants in the third tertile of DPI had 75% reduced odds for DSPN (95%CI 0.14, 0.45; P-trend < 0.001). Finally in the full adjusted model, after further adjustment for BMI, observed significant association was remained (OR highest vs. lowest tertile of DPI: 0.24; 95% CI 0.13, 0.14; P-trend < 0.001). Higher intakes of phytochemical-rich foods are associated with lower odds of DSPN.

Prevalence and Prognostic Impact of Hyponatremia in Guillain-Barré Syndrome: A Systematic Review and Meta-Analysis.

This study aims to systematically review the existing literature and perform a meta-analysis to evaluate the prevalence of hyponatremia among Guillain Barre Syndrome (GBS) patients and its relationship with disease prognosis. We comprehensively searched PubMed, Embase, Medline, Web of Science, Science Direct, and the Cochrane Library databases from 1995 to 2024 for observational studies on the prevalence of hyponatremia in GBS. The meta-analysis followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020) guidelines. Heterogeneity among the included studies was calculated with the I2 for each analysis. We used the Comprehensive Meta-Analysis software (Version 3.3.070; Biostat, Englewood, USA). Eight observational studies met our inclusion criteria. The meta-analysis showed that the pooled prevalence of hyponatremia among GBS patients was 12% (95% CI: 0.107-0.149). The results exhibited high heterogeneity (I² = 99%), indicating significant variability among the studies. Hyponatremia rates reported in these eight studies ranged from 11.5% to 48% in GBS patients. The prevalence of hyponatremia was found to be 12% in GBS patients, which is relatively lower compared to some reports. Hyponatremia was found to be associated with prolonged hospital stay, mortality, and mechanical ventilation as poor prognostic factors. Further prospective studies are needed to elucidate the mechanisms underlying hyponatremia in GBS and to develop targeted interventions to address this issue.

The Association between the Severity of Distal Sensorimotor Polyneuropathy and Increased Carotid Atherosclerosis in Individuals with Type 2 Diabetes.

BACKGROUND: Diabetes contributes to a spectrum of complications encompassing microvascular and macrovascular disorders. This study aimed to explore the correlation between distal sensorimotor polyneuropathy (DSPN) severity and heightened carotid atherosclerosis among individuals with type 2 diabetes mellitus (T2DM). Method: Participants underwent comprehensive assessments including nerve conduction studies (NCS), Toronto Clinical Neuropathy Score (TCNS) evaluations, assessment of cardiometabolic risk factors, and carotid sonography studies covering dynamic and morphological parameters. The resistance index (RI), pulsatility index (PI), peak systolic velocity (PSV), and end-diastolic velocity (EDV) in both the common carotid artery (CCA) and internal carotid artery (ICA), carotid intima-media thickness (IMT), and carotid plaque score (CPS) were also measured. Peripheral nerve function severity was assessed using composite amplitude scores (CAS) derived from NCS. RESULTS: Individuals with DSPN exhibited lower EDV in the CCA and ICA (p < 0.0001 and p = 0.002), higher PI and RI in both CCA and ICA (all p < 0.0001), and higher CPS (p = 0.002). They also demonstrated a higher prevalence of retinopathy as an underlying condition, higher index HbA1c, and reduced estimated glomerular filtration rate (eGFR) (all p < 0.0001). Multiple linear regression analysis revealed significant associations where eGFR, ICA-PI, index HbA1c, waist circumference, and age were correlated with CAS. Meanwhile, diabetes duration, waist circumference, age, and index HbA1c showed significant associations with TCNS. CONCLUSIONS: Our study suggests that individuals with T2DM who exhibit more severe carotid atherosclerosis may not only be at increased risk of developing DSPN but also may experience greater severity of DSPN. PI in both the CCA and ICA, along with the CPS, serve as surrogate biomarkers for DSPN severity.

[N-Check: nerve check to document chemotherapy-induced peripheral neuropathy (CIPN) in incurable cancer]. / N-Check: Nervencheck zur Erfassung einer chemotherapieinduzierten peripheren Neuropathie (CIPN) bei nichtheilbarer Krebserkrankung.

Chemotherapy-induced polyneuropathy (CIPN) encompasses a spectrum of symptoms ranging from hypoesthesia with impaired gait, stance and fine motor skills to painful dysesthesia and allodynia and significantly impairs the quality of life of those affected. In the present pilot study, quantitative sensory testing (QST) was used to investigate CIPN as a common adverse effect of cytostatic drugs in patients with incurable cancer. The QST is a standardized examination procedure that is not yet routinely used in cancer patients. It is used to examine thermal and mechanical perception and pain thresholds to record the subjectively experienced pain phenotype. In the N­Check pilot project, the QST was used before and after tumor-specific, potentially CIPN-inducing treatment and the data collected was compared in a pre-post analysis. In addition, the specific effects of CIPN on the health-related quality of life of patients treated primarily with a palliative intention were recorded using the Functional Assessment for Cancer Therapy-General (FACT-G) questionnaire. Overall, the patients showed significant heat hypoalgesia after chemotherapy as a sign of damage to small nerve fibers. In addition, there were signs of deterioration of the quality of life. The feasibility of QST in patients with incurable cancer and palliative, neurotoxic chemotherapy was demonstrated in this pilot study.

Characterization of the Metabolic Proteome of Serum From Patients With Diabetic Distal Symmetric Polyneuropathy.

AIMS: The pathophysiological of diabetic distal symmetric polyneuropathy (DSPN) remains to be elucidated and there are no diagnostic or prognostic biomarkers for the condition. In this explorative proteomic study, metabolic proteome profiling of serum in patients with/without DSPN was analyzed. We aimed to discover proteins with different abundance ranges through proximity extension assay (PEA) technology. METHODS: Temperature quantitative sensory testing (QST) and electromyography (EMG) were used to access the small- and large-fiber function of all participants, respectively. The metabolic proteome profile of serum was analyzed using PEA technology (Olink Target 96 METABOLISM panel). RESULTS: We evaluated serum from patients without DSPN (n = 27), with small-fiber neuropathy (SFN, n = 25) and with mixed small- and large-fiber neuropathy (MSLFN, n = 24). Fifteen proteins, which were especially related to immune response, insulin resistance, and lipid metabolism, were significantly different between patients without DSPN and with MSLFN. Besides, seven proteins, especially related to extracellular structure organization, were significantly different between serum from patients with SFN and with MSLFN. What's more, serum from patients without DSPN showed that three proteins, related to immune response, altered significantly compared to serum from patients with SFN. CONCLUSIONS: This was the first study that characterized the metabolic proteomic profile of serum in DSPN patients by analyzing a panel of 92 metabolic proteins using PEA technology.

Early differential diagnosis between acute inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy in children: Clinical factors and routine biomarkers.

BACKGROUND: To identify clinical factors and biomarkers that could contribute to early differential diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) and acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) in the pediatric population, with limited evidence. METHODS: We conducted an observational retrospective study of children diagnosed with AIDP and A-CIDP between January 2014 and December 2022. Demographic data, clinical features, and routine biomarkers were also analyzed. Statistical analysis was used to identify significant features with high sensitivity and specificity. RESULTS: We included 91 AIDP and 17 A-CIDP patients. The A-CIDP group had an older median age (6.33 vs. 4.33 years, p = 0.017), required more complex immunotherapies (p < 0.001), and showed a longer time to nadir over 2 weeks (76.5 % vs. 7.7 %, p < 0.001). Gastrointestinal dysfunction (29.4 % vs. 6.59 %, p = 0.014) and numbness (35.3 % vs. 12.1 %, p = 0.027) were more prevalent in A-CIDP. The AIDP patients had a longer median hospitalization stays (13 vs. 11 days, p < 0.05), more prodromal events (90.1 % vs. 64.7 %, p = 0.013), and more frequent cranial nerve palsy (61.5 % vs. 5.88 %, p < 0.001). The disability scores on admission, discharge, and peak were worse in the AIDP group (p < 0.001). AIDP patients showed higher cerebrospinal fluid protein (p = 0.039), albumin quotient (p = 0.048), leukocytes (p = 0.03), neutrophils (p = 0.010), platelet count (p = 0.005), systemic inflammatory index (SII) (p = 0.009), and gamma-glutamyl transferase (p = 0.039). Multivariable regression identified two independent predictors of early A-CIDP detection: time from onset to peak beyond 2 weeks (OR = 37.927, 95%CI = 7.081-203.15) and lower modified Rankin Scale score on admission (OR = 0.308, 95%CI = 0.121-0.788). CONCLUSION: Our study found that when the condition continued to deteriorate beyond two weeks with a lower mRS on admission and possibly less cranial nerve involvement, we may favor the diagnosis of pediatric A-CIDP rather than AIDP.

Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.

BACKGROUND: Charcot-Marie-Tooth type 4C (CMT4C) is a slowly progressive, autosomal recessive, sensorimotor polyneuropathy characterized by demyelination and distinct clinical features, including cranial nerve involvement. CMT4C is associated with pathogenic mutations in the SH3TC2 gene. METHODS: A patient presenting with gait instability due to demyelinating polyneuropathy and refractory trigeminal neuralgia underwent comprehensive evaluation. Nerve conduction studies, magnetic resonance imaging (MRI) of the brain, cervical spine, and thoracic spine, lumbar puncture, and genetic test through next generation sequencing were performed. RESULTS: The genetic test found an Arg1109Stop mutation in the SH3TC2 gene, associated with demyelinating polyneuropathy and cranial neuropathy. Interestingly, brain MRI showed multiple, nonenhancing white matter hyperintensities. This is the first case of CMT4C associated with white matter lesions. CONCLUSION: Any patient with slowly progressive peripheral nervous system symptoms and disproportionally abnormal nerve conduction study findings should be tested for an inherited polyneuropathy and brain imaging for screening of possible central nervous system involvement should be performed. Further investigation is needed to elucidate the pathogenetic basis of CMT4C and a possible association with white matter lesions.

The severity of distal sensory polyneuropathy increasing with HIV/AIDS stage.

Distal sensory polyneuropathy (DSP) is the most common neurological problem in HIV/AIDS Patients. It represents a complex symptom that occurs because of peripheral nerve damage related to advanced HIV disease and in association with the use of antiretroviral therapy. DSP is a frequent symptom in which the specific pathophysiology is not well understood. Recently, mitochondrial toxicity and antiretroviral toxic neuropathies have been more identified as a possible etiology of DSP. This study's objective was to determine factors associated with DSP severity in HIV/AIDS patients. This cross-sectional study was followed by 50 HIV/AIDS outpatients at some hospitals in Makassar, Indonesia who met the inclusion criteria. DSP is diagnosed using non-invasive screening tools subjective peripheral neuropathy screen (SPNS) which can determine the severity of DSP in advance. Some factors were analyzed by using Pearson's chi-square test and Spearman's correlation test. Forty-three participants (86%) had diagnosed DSP which is mostly moderate in severity (48%). Statistical analysis showed significant correlation between HIV/AIDS Stage and DSP severity (p=0.032) meanwhile CD4 count, antiretroviral, body mass index (BMI), and hemoglobin level have no significant correlation to DSP severity. In conclusion, HIV/AIDS stage and DSP severity correlate where the later the stage the more severe DSP.