Bourdain Frédéric, Apartis Emmanuelle, Trocello Jean-Marc, Vidal Jean-Sébastien, Masnou Pascal, Vercueil Laurent, Vidailhet Marie
Department of Neurology, Hôpital Saint-Antoine, Paris, France.
Mov Disord. 2006 May;21(5):599-608. doi: 10.1002/mds.20725.
Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT.
家族性皮质性肌阵挛震颤(FCMT)是一种罕见疾病,常导致对特发性震颤的错误临床诊断。电生理数据通常被认为有助于做出正确诊断。我们描述了一个法裔FCMT家族,其具有先前未报道的临床特征,如对葡萄糖剥夺、振动、重复视觉模式以及强烈视觉或听觉刺激及对比敏感。对先证者的电生理研究证实了光刺激引发的皮质反射性肌阵挛,且无癫痫性脑电图放电。我们强调,精确的临床分析可在电生理确诊前得出正确诊断。这也是左乙拉西坦治疗FCMT有效性的首例报告。