Wolf-Hirschhorn (4p-) syndrome with West syndrome

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• 作者：Hirotaka Motoi^a ; ^{yellow1979@hotmail.co.jp" class="auth_mail" title="E-mail the corresponding author} ; Tohru Okanishi^a ; Sotaro Kanai^a ; Takuya Yokota^a ; Tomohiro Yamazoe^b ; Mitsuyo Nishimura^c ; Ayataka Fujimoto^b ; Takamichi Yamamoto^b ; Hideo Enoki^a
• 关键词：Wolf&ndash ; Hirschhorn syndrome ; Epilepsy ; West syndrome ; Spasm ; Lamotrigine
• 刊名：Epilepsy & Behavior Case Reports
• 出版年：2016
• 出版时间：2016
• 年：2016
• 卷：6
• 期：Complete
• 页码：39-41
• 全文大小：459 K

文摘

Wolf–Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.