Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

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• 作者：Nobutsune Ishikawa^a ; ^b ; ^{ishikan@hiroshima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Yoshiyuki Kobayashi^a ; ^b ; Yuji Fujii^a ; ^b ; Toshiyuki Yamamoto^c ; Masao Kobayashi^a
• 关键词：22q13.3 deletion ; Epileptic spasms ; SHANK3 ; Lennox&ndash ; Gastaut syndrome ; Topiramate
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：38
• 期：1
• 页码：109-112
• 全文大小：1429 K

文摘

Patients with 22q13.3 deletion syndrome present with diverse neurological problems such as global developmental delays, hypotonia, delayed or absent speech, autistic behavior, and epilepsy. Seizures occur in up to one-third of patients with 22q13.3 deletion syndrome; however, only a few reports have provided details regarding the seizure manifestations. The present report describes a patient with 22q13.3 deletion syndrome who presented with late-onset epileptic spasms (ES) and electroencephalography features like Lennox–Gastaut syndrome. An array comparative genomic hybridization analysis revealed that a chromosomal deletion of this patient included SHANK3. To the best of our knowledge, this is the first confirmed case of late-onset ES occur in patients with 22q13.3 deletion syndrome with a SHANK3 deletion.