Hiperecplexia no hereditaria. Estudio de un paciente con características EEG ictales poco habituales y revisión de la bibliografía

Abstract

We present a male patient which presented distal muscular stiffness, from the first hours of the life. At this time, he also presented episodes of generalized muscular hypertonia with cyanosis and apnoea, started by somato-sensorial stimuli. Those episodes were terminated by passive flexion of the extremities and the head. Later, dream myoclonic jolts appeared. EEG tracings during hypertonic episodes showed an initial artefact potential followed by bursts of rhythmic and repetitive acute potentials in the bilateral fronto-central regions, at a 20-22 Hz frequency, similar to an epileptiform spike-wave burst. The EMG showed a continuous muscular activity, suppressed by rest and the administration of diazepam. Treatment with oral diazepam has been very effective. Now, the patient is four years old, is asymptomatic and continues treatment with oral diazepam. If the dose is decreased, the child starts unstable march, startle response on somatosensory stimuli with falls, and above all nocturnal myoclonia. The patient does not have familiar antecedents of hyperekplexia, even in its minor form. Clinical picture suggests us a not familiar form of hyperekplexia.