Kabuki syndrome is a rare dysmorphogenic disorder. The central nervous system is often involved, and epilepsy is a common symptom. The diagnosis is clinical, and no typical electroencephalographic findings have thus far been reported. We have documented temporo-occipital spikes in sleep electroencephalogram in all our three Kabuki patients. The location of the spikes was similar in all cases although their occurrence varied from continuous spiking to single spikes. We suggest that temporo-occipital spikes are typical in Kabuki syndrome and discuss the possible cause of this finding.
Temporo-occipital spikes: are they so typical for Kabuki syndrome? / DI GENNARO, G.; Sebastiano, F.; Quarato, P. P.; Albertini, G.; Majolini, L.; Onorati, Paolo. - In: PEDIATRIC NEUROLOGY. - ISSN 0887-8994. - 31(5):(2004), pp. 379-380. [10.1016/j.pediatrneurol.2004.07.001]
Temporo-occipital spikes: are they so typical for Kabuki syndrome?
ONORATI, Paolo
2004
Abstract
Kabuki syndrome is a rare dysmorphogenic disorder. The central nervous system is often involved, and epilepsy is a common symptom. The diagnosis is clinical, and no typical electroencephalographic findings have thus far been reported. We have documented temporo-occipital spikes in sleep electroencephalogram in all our three Kabuki patients. The location of the spikes was similar in all cases although their occurrence varied from continuous spiking to single spikes. We suggest that temporo-occipital spikes are typical in Kabuki syndrome and discuss the possible cause of this finding.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
