[Genetic, polyphysiographic, CT and therapeutic aspects (author's transl)]

Genetic, clinical, polyphysiographic and therapeutical aspects were investigated in a 37 year old patient suffering from: sporadic and localized segmentary myoclonia (present during rest and increasing slightly during movement), cerebellar syndrome, marked hypoacusia, hyper-reflexia of the lower limbs, spike and polyspike EEG discharges and massive myoclonia during photostimulation. A dominant autosomic inheritance of this syndrome was suggested by the occurrence of a more serious and rapid, yet similar, illness in the mother and by EEG alterations in an 8 year old son. The Authors suggest that, from the clinical point of view, they are dealing with an atypical Ramsay-Hunt syndrome (MCD) with signs of Pierre-Marie Heredoataxia. This supports the possibility, however rare, of intermediate forms between MCD and Heredoataxia. The patient underwent polyphysiographic investigations under the following conditions: i) without therapy; ii) with diphenylhydantoin; iii) with phenobarbital; iv) with sodium dipropyl-acetate; v) with clonazepam. The above investigations confirmed the previously described alterations, during wakefulness or sleep, observed in cases of Unverricht-Lundborg syndrome (PME) and Ramsay-Hunt syndrome (MCD). Clonazepam was found to be the most effective drug in attenuating myoclonia, in reducing the EEG spike activity and in reorganizing the phases and cycles of sleep.