[A case of Smith-Magenis syndrome]

A boy with an interstitial deletion of the short arm of chromosome 17 was reported, with special reference to radiological and electroencephalographic findings. Brain MRI showed megacisterna magna caused by cerebellar hypoplasia, and suspected cortical dysplasia. Sleep EEG showed humps, spindles, and REM sleep patterns. This case performed sleep disturbance. It seems like to tendency of awakeness in REM sleep.