Browse
Submit Data
Databases
API
Help

Dataset Information

31 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Bilateral widespread segmental swelling on nerve sonography in multifocal acquired demyelinating sensory and motor neuropathy : Two case reports

ABSTRACT: Abstract

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, 3 months 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.

SUBMITTER: Hsieh W

PROVIDER: S-EPMC8601274 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Multifocal motor neuropathy, multifocal acquired demyelinating sensory and motor neuropathy, and other chronic acquired demyelinating polyneuropathy variants.

Project description:Chronic acquired demyelinating neuropathies (CADP) constitute an important group of immune neuromuscular disorders affecting myelin. This article discusses CADP with emphasis on multifocal motor neuropathy, multifocal acquired demyelinating sensory and motor neuropathy, distal acquired demyelinating symmetric neuropathy, and less common variants. Although each of these entities has distinctive laboratory and electrodiagnostic features that aid in their diagnosis, clinical characteristics are of paramount importance in diagnosing specific conditions and determining the most appropriate therapies. Knowledge regarding pathogenesis, diagnosis, and management of these disorders continues to expand, resulting in improved opportunities for identification and treatment.

| S-EPMC4098937 | biostudies-literature

Hemiatrophy of the Tongue with Contralateral Hemiparesis in a Patient with Multifocal Acquired Demyelinating Sensory and Motor Neuropathy.

Project description: Not available

| S-EPMC5653631 | biostudies-literature

Multifocal demyelinating motor neuropathy associated with a de novo PTEN mutation

Project description:Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene associated with inherited tumour susceptibility conditions, macrocephaly, autism, ataxia, tremor and epilepsy. Functional implications of this protein have been investigated in Parkinson’s and Alzheimer’s diseases. We describe the first patient presented with multifocal demyelinating motor neuropathy in association with a de novo PTEN mutation. The pathogenicity of the mutation was supported by altered expression of several proteins involved in tumorigenesis and fibroblasts showed a reversible defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4,-trisphosphate, suggesting a novel and potentially treatable mechanism for multi-focal demyelinating motor neuropathy.

2018-10-22 | PXD008014 | Pride

Office immunotherapy in chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy.

Project description:Intravenous immunoglobulin [IVIg], plasma exchange [PE], and corticosteroids are efficacious treatment in chronic inflammatory demyelinating polyneuropathy [CIDP]. IVIg is effective in multifocal motor neuropathy [MMN]. NIS, NIS-weakness, sum scores of raw amplitudes of motor fiber (CMAPs) amplitudes, and Dyck/Rankin score provided reliable measures to detect and scale abnormality and reflect change; they are therefore ideal for office management of response-based immunotherapy (R-IRx) of CIDP. Using efficacious R-IRx, a large early and late therapeutic response (? one-fourth were in remission or had recovered) was demonstrated in CIDP. In MMN only an early improvement with late non-significant worsening was observed. The difference in immunotherapy response supports a fundamental difference between CIDP (immune attack on Schwann cells and myelin) and MMN (attack on nodes of Ranvier and axons).

| S-EPMC4621010 | biostudies-literature

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutation.

Project description:ObjectiveTo describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases.MethodsWe performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing. Immunoblotting, in vitro enzymatic assay, and label-free shotgun proteomic profiling were performed in the patient's fibroblasts.ResultsThe predominant clinical presentation of the patient was a childhood onset, asymmetric progressive multifocal motor neuropathy. In addition, he presented with macrocephaly, autism spectrum disorder, and skin hamartomas, considered as clinical criteria for PTEN-related hamartoma tumor syndrome. Extensive tumor screening did not detect any malignancies. We detected a novel de novo heterozygous c.269T>C, p.(Phe90Ser) PTEN variant, which was absent in both parents. The pathogenicity of the variant is supported by altered expression of several PTEN-associated proteins involved in tumorigenesis. Moreover, fibroblasts showed a defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4-trisphosphate. In support of our findings, focal hypermyelination leading to peripheral neuropathy has been reported in PTEN-deficient mice.ConclusionWe describe a novel phenotype, PTEN-associated multifocal demyelinating motor neuropathy with a skin hamartoma syndrome. A similar mechanism may potentially underlie other forms of Charcot-Marie-Tooth disease with involvement of the phosphatidylinositol pathway.

| S-EPMC5962916 | biostudies-literature

[Unclear bilateral perilimbal swelling].

Project description: Not available

| S-EPMC7653811 | biostudies-literature

Man With Bilateral Leg Swelling.

Project description:A 52-year-old man without known medical history presented with painful, progressive, bilateral lower extremity edema over a two-week period. An abdominal exam noted a firm left upper quadrant mass. Emergency department (ED) point-of-care ultrasound (POCUS) revealed a hyperechoic, heterogeneous structure in the inferior vena cava that was determined to represent a tumor thrombus extending from a primary renal cell carcinoma. This case demonstrates how POCUS was valuable in rapidly diagnosing this rare cause of lower extremity edema and its usefulness in directing the initial ED management of this patient.

| S-EPMC6861031 | biostudies-literature

Immunoglobulin for multifocal motor neuropathy.

Project description: Not available

| S-EPMC8751207 | biostudies-literature

Multifocal visual evoked potentials in chronic inflammatory demyelinating polyneuropathy.

Project description:ObjectiveStudies using conventional full-field visual evoked potentials (ffVEP) have reported subtle abnormalities in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). We hypothesize that these abnormalities can be detected in the majority of CIDP patients using enhanced methods.MethodsWe performed a cross-sectional noninterventional study comparing 18 CIDP patients and 18 matched healthy controls using multifocal VEP (mfVEP) as a technique with enhanced sensitivity to detect conduction abnormalities across the spectrum of optic nerve fibers. Patients with confounding diseases (ophthalmologic, diabetes mellitus) were excluded.ResultsThe mean amplitude and latency, as well as the low-contrast visual acuity, did not differ between CIDP patients and controls. Subanalyses revealed latency differences concerning the superior sector of the visual field. Severity markers of CIDP (ODSS, motor nerve conduction velocity) were associated with mfVEP latency delay.InterpretationWe could not adduce evidence for clinically or diagnostically relevant visual pathway involvement in CIDP. The latency differences identified were very subtle and restricted to the superior visual field which cannot be readily explained biologically, anatomically, or pathologically. In summary, we conclude that our study revealed no relevant differences in mfVEP parameters between CIDP patients and controls.

| S-EPMC6093840 | biostudies-literature

Project description:IntroductionThis study investigated the mental health burden of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) or multifocal motor neuropathy (MMN) during the COVID-19 pandemic in comparison to matched healthy controls.MethodsThe cross-sectional study included 59 patients with a diagnosis of either CIDP or MMN and 59 propensity score matched healthy controls. All participants completed a survey including demographics, distress (distress thermometer), depressive symptoms (PHQ-2), generalized anxiety (GAD-7), COVID-19-related fear, and risk perception. Additionally, patients with CIDP or MMN were asked about the frequency and type of infections since treatment initiation.ResultsPatients with either CIDP or MMN reported experiencing reduced frequency or no differences in infection frequency since immune medication was initiated. Regarding COVID-19, patients with CIDP or MMN rated their risk of infection similar to healthy controls, while they expected a higher probability of the occurrence of symptoms, severe course, and dying of COVID-19. They reported increased depressive symptoms, generalized anxiety, and COVID-19-related fear in comparison to healthy controls.ConclusionDespite their personal experience of reduced frequency of infection since immune medication was initiated, patients with CIDP or MMN reported increased risk perception and prevalence of depressive symptoms, generalized anxiety, and COVID-19-related fear in comparison to healthy controls. This highlights the need for evidence-driven strategies to protect the mental health of this vulnerable group.

| S-EPMC9096336 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data