[Electroclinical characteristics of a patient with ring chromosome 20 syndrome]
- PMID: 24819941
[Electroclinical characteristics of a patient with ring chromosome 20 syndrome]
Abstract
Introduction: The ring chromosome 20 syndrome (r20) is a rare genetic disorder with a late diagnosis.
Case report: 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].
Conclusions: 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.
Title: Caracteristicas electroclinicas de un paciente con sindrome del cromosoma 20 en anillo.
Introduccion. El sindrome del cromosoma 20 en anillo (r20) es una alteracion genetica infrecuente, con un diagnostico tardio. Caso clinico. Varon de 17 años con epilepsia farmacorresistente de 14 años de evolucion, que presentaba retraso mental moderado, alteraciones conductuales y crisis epilepticas consistentes en estados complejos no convulsivos y crisis generalizadas durante la vigilia, junto con manifestaciones epilepticas mas sutiles durante el sueño. El estudio del cariotipo en sangre periferica mostro la existencia de un cromosoma 20 en anillo, cuyos puntos de corte parecen ser p13q13.3, y presento un mosaicismo 46,XY[23]/46,XY,r(20)(p13q13.3)[25]. Conclusiones. El sindrome epileptico r20 parece tener un fenotipo electroclinico caracteristico y, aunque no es patognomonico, deberia ser suficiente para realizar en todos los pacientes que lo cumplan un cariotipo en sangre periferica, que evite asi los multiples ensayos con farmacos y estudios exhaustivos innecesarios. En ese sentido, el estudio electroencefalografico de sueño puede resultar de gran ayuda.
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