Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.
Mohammad Shahrori, Khadeeja Nofal, Hasan H Alkhawaja, Waed Mohsen, Ainaa A Alzamari
原始摘要（英文原文）· Original abstract
Severe baseline developmental delays in complex genetic syndromes like Down-Turner mosaicism can completely mask the psychomotor regression of Infantile Epileptic Spasms Syndrome (IESS). Clinicians must maintain a high index of suspicion and prioritize early video-EEG screening for any abnormal paroxysmal movements.