ESTUDIO VIDEOPOLISOMNOGRÁFICO EN UN PACIENTE CON SOSPECHA DE INSOMNIO FAMILIAR FATAL

Objective. To demonstrate the neurophysiologic and behavior disorders in the wake-sleep cycle typical of fatal familial insomnia (IFF), in a case with clinical suspect and latter genetic diagnostic. Patient and method. Male 39 year old. Family history of an IFF syndrome. Within 5 months he developed impotence, progressive insomnia and episodes of daytime somnolence associated with apneas, myoclonus and anormal motor behavior. He was hospitalized with diplopia, high blood pressure and hyperhidrosis. We carried out a video-polisomnografic long-term monitoring during 24 hours. Each second of the record was classified according to the de Sforza criterium (1995). Results. Waking: closed eyes, restless movements of legs. Responsive posterior alpha rhythm at 8-9 Hz. Sleep: brief episodes of “NREM” and “REM” sleep of atipical features, such as absence of slow wave sleep and marked reduction of spindle frequency activity, with myoclonus, gesturing and apneas. At night, impossibility in falling asleep. After alprazolam, “NREM” sleep during 3,5 hours, without motor activity nor apneas. Discussion and conclusions. The polisomnografic findings characterized by severe alteration of the cyclic sleep organization, reduction in total sleep time and atipical patterns of “NREM” and “REM” sleep. Administration of alprazolam (1 mg orally and 0.5 mg sublingually) allowed increasing night-time sleep, dissapearing jerks and apneas.