Nota Clínica

Electroclinical characteristics of a patient with ring chromosome 20 syndrome

L. Vega-Zelaya, M.C. Alonso-Cerezo, J.F. Quesada, R. García-Sola, J. Pastor [REV NEUROL 2014;58:450-454] PMID: 24819941 DOI: https://doi.org/10.33588/rn.5810.2013533

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Volumen 58 | Number 10 | Nº of views of the article 9.516 | Nº of PDF downloads 519 | Article publication date 16/05/2014

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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. KeywordsGeneralized epilepsy Genetic epilepsy Karyotype Non-convulsive status epilepticus v-EEG CategoriesEpilepsias y síndromes epilépticos Técnicas exploratorias

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Nota Clínica

Electroclinical characteristics of a patient with ring chromosome 20 syndrome