Hatori Takayuki, Sugiyama Yohei, Yamashita Shinichiro, Hirakubo Yuka, Nonaka Kazuhito, Ichihashi Ko
Department of Pediatrics, Jichi Medical University Saitama Medical Center.
J Nippon Med Sch. 2016;83(4):167-71. doi: 10.1272/jnms.83.167.
In a patient with cardiofaciocutaneous syndrome complicated by intractable infantile spasms (West syndrome), cardiac hypertrophy developed during adrenocorticotropic hormone treatment. Various types of antiepileptic drugs, intravenous immunoglobulin, thyrotropin releasing hormone, and a ketogenic diet were ineffective in this case. However, vigabatrin both decreased clinical seizures and improved electroencephalogram findings. Although vigabatrin has not been approved for use in Japan, the results in the present case suggest that this drug should be considered as an alternative therapy for cases of infantile spasms associated with syndromes involving cardiomyopathy or its potential risk factors, such as cardiofaciocutaneous syndrome.
在一名患有心面皮肤综合征并伴有难治性婴儿痉挛症(韦斯特综合征)的患者中,促肾上腺皮质激素治疗期间出现了心脏肥大。各种抗癫痫药物、静脉注射免疫球蛋白、促甲状腺素释放激素和生酮饮食在该病例中均无效。然而,氨己烯酸既减少了临床癫痫发作,又改善了脑电图结果。尽管氨己烯酸在日本尚未获批使用,但本病例的结果表明,对于与涉及心肌病或其潜在危险因素(如心面皮肤综合征)的综合征相关的婴儿痉挛症病例,应考虑将该药物作为替代疗法。