伴有韦斯特综合征的沃尔夫-赫希霍恩（4p-）综合征

Motoi Hirotaka, Okanishi Tohru, Kanai Sotaro, Yokota Takuya, Yamazoe Tomohiro, Nishimura Mitsuyo, Fujimoto Ayataka, Yamamoto Takamichi, Enoki Hideo

Department of Child Neurology, Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.

Department of Epilepsy Surgery, Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.

Epilepsy Behav Case Rep. 2016 Jul 15;6:39-41. doi: 10.1016/j.ebcr.2016.07.001. eCollection 2016.

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.

沃尔夫-赫希霍恩综合征（WHS）是一种染色体疾病（4p综合征），其特征为颅面特征和癫痫发作。在此，我们报告一例患有韦斯特综合征的WHS病例，该患者对多种抗癫痫药物难治，但加用拉莫三嗪后有反应。该患者在7个月大时出现癫痫痉挛。发作间期脑电图呈高峰节律紊乱。加用拉莫三嗪后，癫痫发作显著减少，痉挛消失。我们识别并描述了这例非常罕见的患有WHS且并发韦斯特综合征的女孩病例。在该病例中，加用拉莫三嗪有效治疗了痉挛。