RESUMO
Neuromuscular ultrasound is a painless, radiation-free, high-resolution imaging technique for assessing the peripheral nervous system. It can accurately depict changes in the nerves and muscles of individuals with neuromuscular conditions, and it is therefore a robust diagnostic tool for the assessment of individuals with polyneuropathies. This review will outline the typical ultrasonographic changes found in a wide variety of polyneuropathies. In general, demyelinating conditions result in greater nerve enlargement than axonal conditions, and acquired conditions result in more patchy nerve enlargement compared to diffuse nerve enlargement in hereditary conditions. This review is data-driven, but more nuanced anecdotal findings are also described. The overall goal of this paper is to provide clinicians with an accessible review of the ultrasonographic approaches and findings in a wide variety of polyneuropathies.
Assuntos
Polineuropatias , Ultrassonografia , Humanos , Ultrassonografia/métodos , Polineuropatias/diagnóstico por imagemRESUMO
INTRODUCTION: There is an increasing need for a reproducible and sensitive outcome measure in patients with hereditary transthyretin amyloidosis (ATTRv) with polyneuropathy (PN) due to the emergence of disease modifying therapies. In the current study, we aimed to investigate the role of quantitative muscle ultrasound (QMUS) as a disease biomarker in ATTRv-PN. METHODS: Twenty genetically confirmed ATTRv amyloidosis patients (nine symptomatic, 11 pre-symptomatic) were enrolled prospectively between January to March 2023. Muscle ultrasound was performed on six muscles at standardized locations. QMUS parameters included muscle thickness (MT) and muscle echo intensity (EI). Twenty-five age- and sex-matched healthy controls were recruited for comparison. Significant QMUS parameters were correlated with clinical outcome measures. RESULTS: Muscle volume of first dorsal interosseus (FDI) muscle [measured as cross-sectional area (CSA)] was significantly lower in symptomatic patients compared to healthy controls and pre-symptomatic carriers (98.3 ± 58.0 vs. 184.4 ± 42.5 vs. 198.3 ± 56.8, p < 0.001). EI of biceps and FDI for symptomatic ATTRv-PN patients were significantly higher compared to the other two groups (biceps: 76.4 ± 10.8 vs. 63.2 ± 11.5 vs. 59.2 ± 9.0, p = 0.002; FDI: 48.2 ± 7.5 vs. 38.8 ± 7.5 vs. 33.0 ± 5.3, p < 0.001). CSA of FDI and EI of biceps and FDI correlated with previous validated outcome measures [polyneuropathy disability score, neuropathy impairment score, Karnofsky performance scale, Rasch-built overall disability scale, European quality of life (QoL)-5 dimensions and Norfolk QoL questionnaire-diabetic neuropathy]. CONCLUSION: QMUS revealed significant difference between ATTRv amyloidosis patients and healthy controls and showed strong correlation with clinical outcome measures. QMUS serves as a sensitive and reliable biomarker of disease severity in ATTRv-PN.
Assuntos
Neuropatias Amiloides Familiares , Músculo Esquelético , Polineuropatias , Ultrassonografia , Humanos , Neuropatias Amiloides Familiares/diagnóstico por imagem , Masculino , Feminino , Pessoa de Meia-Idade , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Polineuropatias/diagnóstico por imagem , Idoso , Biomarcadores , AdultoRESUMO
BACKGROUND AND PURPOSE: The role of high-resolution nerve ultrasound (HRUS) and corneal confocal microscopy (CCM) in the early detection of taxane-induced polyneuropathy (TIPN) is unclear. The present prospective longitudinal controlled observational pilot study estimates the role of HRUS and CCM in the early diagnosis of TIPN in breast cancer patients. METHODS: Fifteen breast cancer patients receiving paclitaxel and 15 healthy age matched controls were included. Visits before and 3 weeks, 8 weeks and 6 months after treatment included clinical examination, the total neuropathy score, nerve conduction studies (NCS), monocular CCM including corneal nerve fibre length, density and branching and HRUS of bilateral median, ulnar, radial, tibial, peroneal and sural nerves. Patients were compared between different visits and to healthy controls. RESULTS: Total neuropathy score increased from 2.2 at baseline to 5.8 (p < 0.001) at week 8. NCS showed a decreased sensory amplitude in the sural, radial, ulnar and median nerve after 6 months (p < 0.001). HRUS revealed a significant increase of cross-sectional area in the sural nerve (p = 0.004), the median nerve (p = 0.003) at the carpal tunnel and the ulnar nerve in the forearm (p = 0.006) after 6 months. CCM showed no changes at different visits. CONCLUSIONS: Corneal confocal microscopy and HRUS do not detect early signs of TIPN during the paclitaxel treatment period. HRUS and NCS might detect congruent signs of an axonal, predominantly sensory polyneuropathy after 6 months. The clinical examination remains the most sensitive tool in the early detection of TIPN in breast cancer patients.
Assuntos
Neoplasias da Mama , Neuropatias Diabéticas , Doenças do Sistema Nervoso Periférico , Polineuropatias , Feminino , Humanos , Neoplasias da Mama/tratamento farmacológico , Neuropatias Diabéticas/diagnóstico , Microscopia Confocal , Condução Nervosa/fisiologia , Paclitaxel , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Polineuropatias/induzido quimicamente , Polineuropatias/diagnóstico por imagem , Estudos Prospectivos , Taxoides/efeitos adversos , Projetos PilotoRESUMO
HISTORY: A 72-year-old man sought care for a cognitive deterioration over the past 5 years. There was a documented decline in his performance on the Mini-Mental State Examination (30 of 30 in 2016, 23 of 30 in 2021), with mainly episodic memory impairment. A more detailed history revealed a gait problem, paresthesia in both feet, and nocturnal urinary frequency. Clinical examination findings were suggestive of a length-dependent polyneuropathy. In addition, a right-sided Babinski sign was noted. Electromyography and a nerve conduction study corroborated a peripheral axonal sensorimotor neuropathy. MRI of the brain was performed.
Assuntos
Doença de Depósito de Glicogênio , Polineuropatias , Idoso , Humanos , Masculino , Encéfalo , Pé , Polineuropatias/diagnóstico por imagemRESUMO
INTRODUCTION: Loss of muscle thickness can be demonstrated in a wide spectrum of neuromuscular disorders, while fasciculations are more frequent in amyotrophic lateral sclerosis (ALS). In the current study, we aimed to determine the sensitivity and specificity of quantitative sonographic assessment of muscle thickness and the presence of fasciculations for diagnosing various neuromuscular disorders. METHODS: The thickness and the presence of fasciculations in eight muscles were determined by sonography in patients with myopathy (22), polyneuropathy (36), ALS (91), and spinal muscular atrophy (SMA) (31) and compared to normative values determined in 65 heathy control subjects. RESULTS: Reduced muscle thickness in at least one relaxed muscle showed 92-100% sensitivity for diagnosing a neuromuscular disease, with a specificity of 85% for differentiating patients from heathy controls (AUC = 0.90). Subtracting distal from proximal muscle thickness may differentiate between myopathy and polyneuropathy. Fasciculations in ≥1 proximal muscle showed good diagnostic accuracy (AUC = 0.87) for diagnosing ALS. DISCUSSION: Sonographic assessment of muscle thickness is a sensitive tool for diagnosing a wide spectrum of neuromuscular diseases, and may facilitate diagnosis even in patients with normal strength on neurological examination, while the presence of fasciculations in proximal muscles may facilitate ALS diagnosis.
Assuntos
Esclerose Lateral Amiotrófica , Doenças Musculares , Doenças Neuromusculares , Polineuropatias , Humanos , Fasciculação/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Eletromiografia , Doenças Neuromusculares/diagnóstico por imagem , Ultrassonografia , Polineuropatias/diagnóstico por imagemRESUMO
Background and Objectives: Ultrasound (US) is a non-invasive tool for the in vivo detection of peripheral nerve alterations. Materials and Methods: In this study, we applied nerve US to assist the discrimination between the spectrum of amyotrophic lateral sclerosis (ALS, n = 11), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP, n = 5), and genetically confirmed Charcot-Marie-Tooth disease (CMT, n = 5). All participants and n = 15 controls without neurological diseases underwent high-resolution US of the bilateral tibial nerve. The nerve cross-sectional area (CSA) and nerve microvascular blood flow were compared between the groups and related to cerebrospinal fluid (CSF) measures, clinical symptoms, and nerve conduction studies. The analyses are part of a larger multimodal study on the comparison between US and 7 Tesla (7T) magnetic resonance neurography (MRN). Results: The patients and controls were matched with respect to their demographical data. CMT had the longest disease duration, followed by CIDP and ALS. CSA was related to age, weight, and disease duration. CSA was larger in CMT and CIDP compared to ALS and controls. The blood flow was greatest in CIDP, and higher than in CMT, ALS, and controls. In ALS, greater CSA was correlated with greater CSF total protein and higher albumin quotient. The US measures did not correlate with clinical scores or nerve conduction studies in any of the subgroups. Conclusion: Our results point towards the feasibility of CSA and blood flow to discriminate between ALS, CIDP, and CMT, even in groups of small sample size. In ALS, larger CSA could indicate an inflammatory disease subtype characterized by reduced blood-nerve barrier integrity. Our upcoming analysis will focus on the additive value of 7T MRN in combination with US to disentangle the spectrum between more inflammatory or more degenerative disease variants among the disease groups.
Assuntos
Esclerose Lateral Amiotrófica , Polineuropatias , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico por imagem , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Nervos Periféricos/diagnóstico por imagem , Polineuropatias/diagnóstico por imagem , Ultrassonografia/métodosRESUMO
HISTORY: A 72-year-old man sought care for a cognitive deterioration over the past 5 years. There was a documented decline in his performance on the Mini-Mental State Examination (30 of 30 in 2016, 23 of 30 in 2021), with mainly episodic memory impairment. A more detailed history revealed a gait problem, paresthesia in both feet, and nocturnal urinary frequency. Clinical examination findings were suggestive of a length-dependent polyneuropathy. In addition, a right-sided Babinski sign was noted. Electromyography and a nerve conduction study corroborated a peripheral axonal sensorimotor neuropathy. MRI of the brain was performed (Figure).
Assuntos
Transtornos Cognitivos , Polineuropatias , Masculino , Humanos , Idoso , Polineuropatias/diagnóstico por imagem , Eletromiografia , Imageamento por Ressonância MagnéticaRESUMO
PURPOSE OF REVIEW: The purpose if this review is to provide an overview of the available data on the use of nerve ultrasound for the diagnosis and follow-up of peripheral neuropathies. RECENT FINDINGS: During the last decade, nerve ultrasound has been established as a complementary tool for the evaluation of morphological changes mostly for immune-mediated polyneuropathies. Through the development of ultrasound protocols for evaluation of disease-specific sites, nerve ultrasound has proven to be a practical, widely available, reproducible diagnostic tool with no relevant contraindications. SUMMARY: Cross-sectional area, echogenicity, morphology of the individual nerve fascicles, thickness of the epineurium, vascularization and mobility of the nerve are the main parameters evaluated with nerve ultrasound in polyneuropathies. Patients with typical chronic inflammatory demyelinating polyneuropathy show multifocal nerve enlargements easily visible on the upper extremities and the brachial plexus, whereas its variants show focal nerve enlargements. On the other hand, axonal neuropathies including diabetic neuropathy present with isolated nerve enlargement mostly in compression sites.
Assuntos
Neuropatias Diabéticas , Polineuropatias , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Seguimentos , Polineuropatias/diagnóstico por imagem , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico por imagem , Ultrassonografia/métodos , Nervos Periféricos/diagnóstico por imagemRESUMO
Peripheral neuropathy may cause serious complications such as foot ulcers and Charcot joint which can prevent by early diagnosis. We aimed to analyze the diagnostic value of ultrasonographic measurements of nerves and muscles in distal symmetric axonal polyneuropathy (DSAP). Study included 51 DSAP patients and 51 controls. Nerve conduction studies were performed. Median, ulnar, tibial, superficial peroneal, and sural nerves and the abductor pollicis brevis (APB), abductor digiti minimi (ADM), first dorsal interosseous (FDI), extensor digitorum brevis (EDB), abductor hallucis (AH) and tibialis anterior (TA) muscles were evaluated with ultrasound. The Toronto clinical scoring system (TCSS) was used to assess the severity of neuropathy. The median, ulnar, and tibial nerve cross-sectional areas (CSA) were higher in the DSAP group (p = 0.025, p = 0.011, p < 0.001 respectively) while superficial peroneal and sural nerve CSAs were not differed. Only AH and EDB ultrasonographic findings from the muscles differed between the two groups. Effect of diabetes and DSAP on sonographic findings were assessed with two-way ANOVA. Results indicated that only DSAP had a significant effect on sonographic nerve and muscle examination. The area under the ROC curve was 0.831 ± 0.042 for tibial nerve CSA (p < 0.001) with a cut-off value of 15.5 mm2 (sensitivity 74% and specificity 83%). Median, ulnar and tibial nerve CSAs were found to be larger in polyneuropathy patients and they were associated with the clinical and electrophysiological severity of polyneuropathy. ROC analysis showed that tibial nerve CSA may have a predictive value in the diagnosis of DSAP.
Assuntos
Condução Nervosa , Polineuropatias , Humanos , Condução Nervosa/fisiologia , Polineuropatias/diagnóstico por imagem , Nervo Tibial/diagnóstico por imagem , Ultrassonografia , Músculo EsqueléticoRESUMO
BACKGROUND: The development of reproducible and sensitive outcome measures has been challenging in hereditary transthyretin (ATTRv) amyloidosis. Recently, quantification of intramuscular fat by magnetic resonance imaging (MRI) has proven as a sensitive marker in patients with other genetic neuropathies. The aim of this study was to investigate the role of muscle quantitative MRI (qMRI) as an outcome measure in ATTRv. METHODS: Calf- and thigh-centered multi-echo T2-weighted spin-echo and gradient-echo sequences were obtained in patients with ATTRv amyloidosis with polyneuropathy (n = 24) and healthy controls (n = 12). Water T2 (wT2) and fat fraction (FF) were calculated. Neurological assessment was performed in all ATTRv subjects. Quantitative MRI parameters were correlated with clinical and neurophysiological measures of disease severity. RESULTS: Quantitative imaging revealed significantly higher FF in lower limb muscles in patients with ATTRv amyloidosis compared to controls. In addition, wT2 was significantly higher in ATTRv patients. There was prominent involvement of the posterior compartment of the thighs. Noticeably, FF and wT2 did not exhibit a length-dependent pattern in ATTRv patients. MRI biomarkers correlated with previously validated clinical outcome measures, Polyneuropathy Disability scoring system, Neuropathy Impairment Score (NIS) and NIS-lower limb, and neurophysiological parameters of axonal damage regardless of age, sex, treatment and TTR mutation. CONCLUSIONS: Muscle qMRI revealed significant difference between ATTRv and healthy controls. MRI biomarkers showed high correlation with clinical and neurophysiological measures of disease severity making qMRI as a promising tool to be further investigated in longitudinal studies to assess its role at monitoring onset, progression, and therapy efficacy for future clinical trials on this treatable condition.
Assuntos
Neuropatias Amiloides Familiares , Polineuropatias , Humanos , Estudos Transversais , Neuropatias Amiloides Familiares/diagnóstico por imagem , Músculos , Polineuropatias/diagnóstico por imagem , Polineuropatias/etiologia , Imageamento por Ressonância Magnética , Biomarcadores , Pré-AlbuminaRESUMO
BACKGROUND: Diabetic neuropathy (DN) is a very common clinical condition throughout the world. The diagnostic tests currently recommended have low sensitivity, such as electromyography, or are invasive, such as skin biopsy. New techniques have been developed to identify the early involvement of the peripheral nerve. With the advent of corneal confocal microscopy (CCM), a reduction in corneal innervation in patients with DN has been observed. OBJECTIVE: To compare, through CCM, diabetic patients with symptomatic distal symmetric polyneuropathy (DSP) and controls. METHODS: In the present study, through CCM, we compared the morphological changes in the sub-basal epithelial corneal plexus of 35 diabetic patients with symptomatic DSP with 55 controls. Moreover, we sought to determine a pattern of change regarding the severity stages of DSP, comparing the clinical, laboratory, and nerve-conduction (NC) variables. RESULTS: Differences between the control and diabetic groups were observed for the following variables, respectively: age (44.9 ± 13.24 years versus 57.02 ± 10.4 years; p < 0.001); fiber density (29.7 ± 10.2 versus 16.6 ± 10.2; p < 0.001); number of fibers (4.76 ± 1.30 versus 3.14 ± 1.63; p < 0.001); number of Langerhans cells (4.64 ± 8.05 versus 7.49 ± 10.3; p = 0.035); tortuosity (p < 0.05); and thickness (p < 0.05). Furthermore, inverse relationships were found regarding fiber density and age (p < 0.01) and fiber density and the severity of the disease (p < 0.05). A positive relationship between the conduction velocity of the fibular nerve and fiber density (p < 0.05) was also observed. CONCLUSION: Corneal confocal microscopy proved to be a fast, noninvasive and reproducible method for the diagnosis, staging, and monitoring of diabetic DSP.
ANTECEDENTES: A neuropatia diabética (ND) é condição clínica muito frequente no mundo inteiro. Os testes diagnósticos atualmente preconizados são pouco sensíveis, como a eletroneuromiografia, ou invasivos, como a biópsia de pele. Novas técnicas de investigação complementares têm sido desenvolvidas a fim de identificar o acometimento precoce do nervo periférico. Com o advento da microscopia confocal de córnea (MCC), observou-se redução da inervação da córnea em pacientes com ND. OBJETIVO: Comparar, por meio da MCC, pacientes diabéticos com polineuropatia simétrica distal (PSD) sintomática e controles. MéTODOS: Neste estudo, por meio da MCC, comparamos as alterações morfológicas do plexo sub-basal epitelial da córnea de 35 pacientes diabéticos com PSD sintomática com 55 indivíduos controles. Além disso, buscamos determinar um padrão de alteração entre os estágios de gravidade da PSD, comparando variáveis clínicas, laboratoriais e de neurocondução. RESULTADOS: Diferenças entre os grupos controle e diabéticos foram verificadas com relação às seguintes variáveis, respectivamente: idade (44,9 ± 13,24 anos versus 57,02 ± 10,4 anos; p < 0,001); densidade das fibras (29,7 ± 10,2 versus 16,6 ± 10,2; p < 0,001); número de fibras (4,76 ± 1,30 versus 3,14 ± 1,63; p < 0,001); número de células de Langerhans (4,64 ± 8,05 versus 7,49 ± 10,3; p = 0,035); tortuosidade (p < 0,05), e espessura (p < 0,05). Além disso, relações inversamente proporcionais foram verificadas entre a densidade das fibras e a idade (p < 0,01), e entre a densidade das fibras e a gravidade da doença (p < 0,05). Observou-se ainda uma relação positiva entre a velocidade de condução do nervo fibular e a densidade das fibras (p < 0,05). CONCLUSãO: A MCC constitui um método rápido, não invasivo e reprodutível para o diagnóstico, o estadiamento, e o acompanhamento da PSD diabética.
Assuntos
Neuropatias Diabéticas , Polineuropatias , Adulto , Córnea/diagnóstico por imagem , Córnea/inervação , Córnea/patologia , Neuropatias Diabéticas/diagnóstico por imagem , Humanos , Microscopia Confocal/métodos , Pessoa de Meia-Idade , Condução Nervosa , Polineuropatias/diagnóstico por imagemRESUMO
OBJECTIVE: Late-onset hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with heart involvement. Recent advances in cardiac imaging allow the detection of cardiac amyloidosis. This study aimed to explore cardiomyopathy by cardiac imaging and its clinical correlates with polyneuropathy in late-onset ATTRv-PN. METHODS: Polyneuropathy was assessed by intraepidermal nerve fiber (IENF) density, nerve conduction study (NCS), autonomic function tests, quantitative sensory testing, and clinical questionnaires. Cardiomyopathy was evaluated by echocardiography, 99m Tc-pyrophosphate (PYP) single-photon emission computed tomography (SPECT) imaging, cardiac magnetic resonance imaging (CMR), and serum Pro-B-type natriuretic peptide. Healthy controls and patients with Brugada syndrome were enrolled for comparison of CMR. RESULTS: Fifty late-onset ATTRv-PN patients (38 men, 46 with p. A117S mutation), aged 63.7 ± 5.5 years, of polyneuropathy disability stage 1-4 were enrolled. All patients presented polyneuropathy in NCS, and 74.5% of patients had reduced IENF density in distal legs. All patients showed significant radiotracer uptake in the heart on 99m Tc-PYP SPECT imaging, and 87.8% of patients had abnormally increased left ventricular (LV) septum thickness on echocardiography. CMR showed longer myocardial native T1, larger extracellular volume, greater LV mass index, and higher LV mass to end-diastolic volume ratio in ATTRv-PN patients than healthy controls and patients with Brugada syndrome. These CMR parameters were associated with skin denervation, absent sympathetic skin responses, elevated thermal thresholds, worsened NCS profiles, and functional deficits of polyneuropathy. INTERPRETATION: Late-onset ATTRv-PN coexisted with cardiomyopathy regardless of the clinical severity of polyneuropathy. The cardiac amyloid burden revealed by CMR was correlated with pathophysiology and clinical disability of nerve degeneration.
Assuntos
Neuropatias Amiloides , Síndrome de Brugada , Cardiomiopatias , Polineuropatias , Idoso , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polineuropatias/diagnóstico por imagem , Pré-AlbuminaRESUMO
ABSTRACT: We present the case of a 37-year-old woman with alcohol use disorder, who developed leg cramping, bilateral foot drop, and hand weakness 3 months after starting disulfiram. This was accompanied by an 18-pound involuntary weight loss. Electrophysiologic findings showed a motor predominant axonal neuropathy. Neuromuscular ultrasound showed normal to small cross-sectional area of all nerves studied. This case is discussed, and the ultrasound findings are compared with another reported case.
Assuntos
Alcoolismo , Doenças do Sistema Nervoso Periférico , Polineuropatias , Adulto , Dissulfiram/efeitos adversos , Feminino , Humanos , Polineuropatias/induzido quimicamente , Polineuropatias/diagnóstico por imagem , UltrassonografiaRESUMO
OBJECTIVES: Our aim was to evaluate the ability of magnetic resonance neurography (MRN) of the lumbo-sacral plexus (LSP) to distinguish patients with hereditary transthyretin-related amyloidosis with polyneuropathy (ATTRv-PN) from asymptomatic variant carriers (AVC) and healthy controls and to assess its prognostic value. METHODS: Three-Tesla MRN was performed in 25 consecutive ATTRv-PN patients, 18 AVC, and 10 controls including T2-w DIXON and DWI MR sequences. Two blinded readers independently assessed LSP root diameter and intraneural signal on the MRN images of each subject. MRN findings were compared between groups and correlated with clinical impairment scored on the Neuropathy Impairment Score (NIS) and the modified Polyneuropathy Disability score (mPND). RESULTS: The agreement between readers on MRN images was excellent (Cohen's kappa = 0.82). LSP root enlargement was significantly more frequent in ATTRv-PN patients compared to AVC (ratio = 4.38, p = 0.038). Increased LSP root intraneural signal on T2-w images was significantly more frequent in ATTRv-PN patients compared to AVC (ratio = 3.4, p = 0.016). In contrast, there were no MRN abnormalities in controls. In ATTRv-PN patients, LSP root enlargement was associated with higher mPND scores (p = 0.03) and increased intraneural signal on T2-w images was associated with significantly higher NIS and mPND scores (p = 0.004 and 0.02, respectively). CONCLUSIONS: MRN of the LSP can help differentiate ATTRv-PN patients from AVC. LSP root enlargement and increased intraneural signal are significantly associated with clinical impairment, suggesting potential implications for patient care. KEY POINTS: ⢠ATTRv-PN patients showed abnormal LSP changes on MRN. ⢠MRN of the LSP can help to differentiate ATTRv-PN patients from AVC and healthy controls. ⢠LSP root enlargement and increased intraneural signal were significantly associated with clinical impairment in ATTRv-PN patients.
Assuntos
Neuropatias Amiloides Familiares , Polineuropatias , Humanos , Pré-Albumina , Neuropatias Amiloides Familiares/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Plexo Lombossacral/diagnóstico por imagem , Polineuropatias/diagnóstico por imagem , HipertrofiaRESUMO
INTRODUCTION/AIMS: Progressive axonal loss in multifocal motor neuropathy (MMN) is often assessed with nerve conduction studies (NCS), by recording maximum compound muscle action potentials (CMAPs). However, reinnervation maintains the CMAP amplitude until a significant portion of the motor unit (MU) pool is lost. Therefore, we performed more informative CMAP scans to study MU characteristics in a large cohort of patients with MMN. METHODS: We derived the maximum CMAP amplitude (CMAPmax ), an MU number estimate (MUNE), and the largest MU amplitude stimulus current required to elicit 5%, 50%, and 95% of CMAPmax (S5, S50, S95) and relative ranges ([S95 - S5] × 100 / S50) from the scans. These metrics were compared with clinical, laboratory, and NCS results. RESULTS: Forty MMN patients and 24 healthy controls were included in the study. CMAPmax and MUNE were reduced in MMN patients (both P < .001). Largest MU amplitude as a percentage of CMAPmax was increased in MMN patients (P < .001). Disease duration and treatment duration were not associated with MUNE. Relative range was larger in patients with anti-GM1 antibodies than in those without anti-GM1 antibodies (P = .016) and controls (P < .001). The largest MU amplitudes were larger in patients without anti-GM1 antibodies than in patients with anti-GM1 antibodies (P = .037) and controls (P = .044). DISCUSSION: We found that MU loss is common in MMN and accompanied by enlarged MUs. Presence of anti-GM1 antibodies was associated with increased relative range of MU thresholds and reduction in largest MU amplitude. Our findings indicate that CMAP scans complement routine NCS, and may have potential for practical monitoring of treatment efficacy and disease progression.
Assuntos
Polineuropatias , Potenciais de Ação/fisiologia , Estudos de Coortes , Progressão da Doença , Humanos , Condução Nervosa/fisiologia , Polineuropatias/diagnóstico por imagemRESUMO
INTRODUCTION: Multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) is an asymmetric immune-related neuropathy with conduction block. We report 2 MADSAM cases with detailed clinical, electrophysiological, and sonography profiles. PATIENT CONCERNS AND DIAGNOSIS: Two cases presented with patchy sensorimotor impairment in both clinical and electrophysiological findings. Notably, nerve ultrasound demonstrated multifocal nerve enlargement not only at sites of conduction blockade but also at the unaffected contralateral sites. Interestingly, in our first case, focal radial nerve enlargement was observed prior to the clinical manifestations, suggesting nerve dynamic pathogenesis with variable clinical significance. INTERVENTIONS AND OUTCOMES: The first patient was initially treated with prednisolone, however, 3âmonths after steroid therapy, her symptoms progressed. After treatment with intravenous immunoglobulin for 3 months, the symptoms stabilized. The second patient showed improvement after 2 months of prednisolone treatment. CONCLUSION: These observations suggest a more widespread pathomechanism underlying MADSAM, and ultrasound may detect nerve lesions earlier than clinical electrophysiology studies, and is warranted for early detection and thorough documentation of nerve pathology.
Assuntos
Neurite (Inflamação)/terapia , Polineuropatias/diagnóstico por imagem , Nervo Radial/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Adulto , Feminino , Humanos , Imunoglobulinas Intravenosas , Masculino , Condução Nervosa , Polineuropatias/terapia , Prednisolona/uso terapêuticoRESUMO
One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White-Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features and natural history have not been exhaustively characterized yet. The phenotypic spectrum of the WHSUS is broad and includes moderate to severe ID, microcephaly, variable cerebral malformations, short stature, brachydactyly, visual abnormalities, sensorineural hearing loss, hypotonia, sleep difficulties, autistic features, self-injurious behaviour, feeding difficulties, gastroesophageal reflux, and other less frequent features. Here, we report the case of a girl with microcephaly, brain malformations, developmental delay (DD), peripheral polyneuropathy, and adducted thumb-a remarkable clinical feature in the first years of life-and heterozygous for a previously unreported, de novo splicing variant in POGZ. This report contributes to strengthen and expand the knowledge of the clinical spectrum of WHSUS, pointing out the importance of less frequent clinical signs as diagnostic handles in suspecting this condition.