Developmental Malformations
Hypomelanosis of Ito
Dec. 14, 2023
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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This boy started having generalized tonic-clonic seizures at the age of 6.5 years. He was treated successfully with sodium valproate for 4 years before treatment was discontinued. He relapsed at the age of 11.5 years with a generalized seizure and 5 episodes of abnormal behavior and incoherent speech. He was seen for the first time, and the sleep-awake video-EEG revealed brief generalized spike-wave discharges, some lasting up to 6 seconds, with concomitant conspicuous or inconspicuous typical absence seizures. Note a generalized spike-and-wave discharge during sleep: He partially opens his eyes and has a vague look and mild eyelid jerking. His eyes close again immediately after the abrupt discharge termination. Hyperventilation: Note that during the brief generalized spike-and-wave discharge, he stops overbreathing, his eyes open, and he stares with concomitant head turning backwards. The patient responds immediately after the abrupt discharge termination. Intermittent photic stimulation: Note generalized spike-and-wave discharges provoked at flashes 21 Hz, 22 Hz, and 23 Hz, with typical absence seizures, during which he stops counting. This patient responded to sodium valproate. (Contributed by Dr. Athanasios Covanis.)