Imon Kazuki, Neshige Shuichiro, Maeda Akiko, Yamamoto Yumiko, Maruyama Hirofumi
Department of Clinical Neuroscience and Therapeutics, Hiroshima University, Hiroshima, JPN.
Cureus. 2024 Mar 17;16(3):e56303. doi: 10.7759/cureus.56303. eCollection 2024 Mar.
We report a case involving a 31-year-old male without any known precipitating injuries presenting with involuntary finger movements and rare seizures. There was a noted family history of tremulous movements. Yet the characteristics of his finger movements were irregular and not typical of essential tremor (ET). Electrophysiological examinations, including video EEG, showed no epileptic discharges, and brain MRI results were normal. However, somatosensory evoked potentials (SEP) revealed the presence of giant SEP, and a positive cortical (C)-reflex was observed, leading to a clinical diagnosis of benign adult familial myoclonus epilepsy (BAFME). Management with valproic acid and perampanel resulted in a significant reduction of symptoms. This case highlights the necessity of considering BAFME in the differential diagnosis for atypical tremorous finger movements, especially with a relevant family history, and the critical role of electrophysiological findings indicative of cortical hyperexcitability.
我们报告了一例病例，患者为一名31岁男性，无任何已知的诱发损伤，表现为手指不自主运动和罕见的癫痫发作。有震颤运动的家族病史。然而，他手指运动的特征不规则，并非典型的特发性震颤（ET）。包括视频脑电图在内的电生理检查未显示癫痫放电，脑部MRI结果正常。然而，体感诱发电位（SEP）显示存在巨大SEP，并观察到阳性皮质（C）反射，从而临床诊断为良性成人家族性肌阵挛癫痫（BAFME）。使用丙戊酸和吡仑帕奈治疗后症状明显减轻。该病例强调了在非典型震颤性手指运动的鉴别诊断中，尤其是有相关家族病史时，考虑BAFME的必要性，以及提示皮质兴奋性过高的电生理结果的关键作用。
