Sleep manifestations of ring chromosome 20 [r(20)] syndrome are little known and are described as turning or rubbing movements. We described by video-polysomnographic exams a phenotypical heterogeneity of epileptic events in a patient with r(20) syndrome characterized by episodes of pseudo-arousals with prolonged confusional non convulsive status associated to incoherent speech, frontal seizures with head and ocular deviation associate to limb movements, temporal seizures with staring, stereotyped and distonic gesture associated to frightened expression and behavior of terror, parietal seizures with arm and trunk deviation and occipital seizures with eyelid flickering and ocular exploring movements. Electroclinical features, especially during sleep, could be useful for the [r(20)] syndrome diagnosis.

Phenotypical heterogeneity of morpheic seizures in a case of ring chromosome 20 syndrome [Eterogeneità fenotipica delle crisi morfeiche in un caso di sindrome del cromosoma 20 ad anello]

SOFIA, Vito;ZAPPIA, MARIO
2008-01-01

Abstract

Sleep manifestations of ring chromosome 20 [r(20)] syndrome are little known and are described as turning or rubbing movements. We described by video-polysomnographic exams a phenotypical heterogeneity of epileptic events in a patient with r(20) syndrome characterized by episodes of pseudo-arousals with prolonged confusional non convulsive status associated to incoherent speech, frontal seizures with head and ocular deviation associate to limb movements, temporal seizures with staring, stereotyped and distonic gesture associated to frightened expression and behavior of terror, parietal seizures with arm and trunk deviation and occipital seizures with eyelid flickering and ocular exploring movements. Electroclinical features, especially during sleep, could be useful for the [r(20)] syndrome diagnosis.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/6922
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