Características electroclínicas de un paciente con síndrome del cromosoma 20 en anillo

Abstract

The ring chromosome 20 syndrome (r20) is a rare genetic disorder with a late diagnosis. A 17 year old boy with drug-resistant epilepsy of 14 years of evolution, which has moderate mental retardation, behavioral alterations and seizures consisting of complex non-convulsive status and generalized seizures during wakefulness, along with more subtle epileptic manifestations during sleep. Karyotype in peripheral blood showed the existence of a ring chromosome 20, whose breakpoints were p13q13.3, presenting a mosaicism 46,XY[23]/46,XY,r(20)(p13q13.3)[25]. The epileptic r20 syndrome seems to have a characteristic electroclinical phenotype and, although not pathognomonic, should be sufficient for all patients who meet a karyotype in peripheral blood, thus avoiding multiple trials with unnecessary drugs and exhaustive studies. In this sense, the study of sleep EEG may be helpful.