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Yıl:2024; Cilt: 61; Sayı: 2>> Özet
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Nöropsikiyatri Arşivi; 2024;61(2):184-188
Jeneralize Periferik Sinir Hipereksitabilitesi ve Nöropati: Olgu Serisi veUzun Dönem Sonuçları
O Akan, L Baysal, T Aksu-Uzunhan, E Tüzün
Sağlık Bilimleri Üniversitesi, İstanbul
Giriş: Periferik sinir hipereksitabilite (PSH) sendromları, alt motor nöronların spontan deşarjlarına bağlı olarak sürekli kas aşırı aktivitesi ile karakterize, nadir görülen, heterojen bir hastalık grubudur. Olgu Serisi: Bu seride ağrılı kramplar, yaygın kas seğirmeleri ve alt ekstremite güçsüzlüğü ile başvuran dört hastayı sunuyoruz. Tüm hastalarda elektrodiagnostik çalışmalarda nöropati ve nöromiyotonik deşarjlar saptandı. Geniş bir anti-nöronal antikor paneli taraması, bir hastada karakterize edilmemiş nöropil antikorlarını gösterdi. Kapsamlı serolojik ve genetik araştırmalara rağmen kohortumuzda kesin bir etiyoloji bulunamadı. Üç hastadan biri immünoterapiye iyi yanıt verdi. Hastalarda 1,5–3 yıllık takip süresinde malignite dâhil başka bir hastalık görülmedi. Sonuç: Vaka serimiz, PSH’de yüksek nöropati prevalansını göstermektedir. Anti-nöronal antikor pozitifliği ve erken tanı olası olumlu prognostik faktörler arasındadır.
Generalized Peripheric Nerve Hyperexcitability with Neuropathy:Case Series with Long-Term Outcome
ntroduction: 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.

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