Generalized Peripheric Nerve Hyperexcitability with Neuropathy: Case Series with Long-Term Outcome Jeneralize Periferik Sinir Hipereksitabilitesi ve Nöropati: Olgu Serisi ve Uzun Dönem Sonuçları
Noropsikiyatri Arsivi, cilt.61, sa.2, ss.184-188, 2024 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 61 Sayı: 2
- Basım Tarihi: 2024
- Doi Numarası: 10.29399/npa.28430
- Dergi Adı: Noropsikiyatri Arsivi
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.184-188
- Anahtar Kelimeler: Isaacs syndrome, neuromyotonia, peripheric nerve hyperexcitability
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.