[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.
D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D002998:Clonazepam / Q000627:therapeutic use; D004569:Electroencephalography; D006801:Humans; D008297:Male; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D012890:Sleep; D014057:Tomography, X-Ray Computed
D002998:Clonazepam
Aspetti genetici, polifisiografici, TC e terapeutici in un caso di encefalopatia mioclonica familiare con particolari caratteristiche cliniche.