{"title":"Generalized Peripheric Nerve Hyperexcitability with Neuropathy: Case Series with Long-Term Outcome.","authors":"Onur Akan, Leyla Baysal, Tuğçe Aksu Uzunhan, Erdem Tüzün","doi":"10.29399/npa.28430","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Peripheric nerve hyperexcitability (PNH) syndromes are a rare, heterogenous group of diseases characterized by continuous muscle overactivity due to spontaneous discharges of the lower motor neurons.</p><p><strong>Case series: </strong>Here we report four patients presented with painful cramps, generalized muscle twitches and lower extremity weakness. All patients had evidence of neuropathy and neuromyotonic discharges on electrodiagnostic studies. Screening for a broad panel of anti-neuronal antibodies proved uncharacterized neuropil antibodies in one patient. Despite extensive serologic and genetic investigations, no definitive etiology was found in our cohort. One out of three patients responded well to immunotherapy. No other diseases including malignancy appeared for 1.5-3 years follow-up duration.</p><p><strong>Conclusion: </strong>Our case series indicate a putatively high prevalence of neuropathy in PNH and emphasize anti-neuronal antibody positivity and early diagnosis as potential favorable prognostic factors.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2023-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11165604/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.29399/npa.28430","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Peripheric nerve hyperexcitability (PNH) syndromes are a rare, heterogenous group of diseases characterized by continuous muscle overactivity due to spontaneous discharges of the lower motor neurons.
Case series: Here we report four patients presented with painful cramps, generalized muscle twitches and lower extremity weakness. All patients had evidence of neuropathy and neuromyotonic discharges on electrodiagnostic studies. Screening for a broad panel of anti-neuronal antibodies proved uncharacterized neuropil antibodies in one patient. Despite extensive serologic and genetic investigations, no definitive etiology was found in our cohort. One out of three patients responded well to immunotherapy. No other diseases including malignancy appeared for 1.5-3 years follow-up duration.
Conclusion: Our case series indicate a putatively high prevalence of neuropathy in PNH and emphasize anti-neuronal antibody positivity and early diagnosis as potential favorable prognostic factors.
期刊介绍:
Archives of Neuropsychiatry (Arch Neuropsychiatry) is the official journal of the Turkish Neuropsychiatric Society. It is published quarterly, and four editions annually constitute a volume.
Archives of Neuropsychiatry is a peer reviewed scientific journal that publishes articles on psychiatry, neurology, and behavioural sciences. Both clinical and basic science contributions are welcomed. Submissions that address topics in the interface of neurology and psychiatry are encouraged. The content covers original research articles, reviews, letters to the editor, and case reports.