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Wolf-Hirschhorn (4p-) syndrome with West syndrome. 2016

Hirotaka Motoi, and Tohru Okanishi, and Sotaro Kanai, and Takuya Yokota, and Tomohiro Yamazoe, and Mitsuyo Nishimura, and Ayataka Fujimoto, and Takamichi Yamamoto, and Hideo Enoki
Department of Child Neurology, Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.

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.

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