第4巻 2008年4月　第2号

■症例報告

焦点性発作で発症しWest症候群を併発したI型滑脳症の乳児例
初鹿野　見春, 浅井　牧子, 矢代　健太郎, 柳原　剛, 藤松　真理子, 西澤　善樹, 上砂　光裕, 藤田　武久, 勝部　康弘
日本医科大学大学院医学研究科小児医学
日本医科大学武蔵小杉病院小児科

A Japanese Boy with Lissencephaly I First Diagnosed by Manifestation of Focal Seizures and Accompanied West Syndrome
Miharu Hajikano, Makiko Asai, Kentarou Yashiro, Takeshi Yanagihara, Mariko Fujimatsu, Yoshiki Nishizawa, Mitsuhiro Kamisago, Takehisa Fujita and Yasuhiro Katsube
Department of Pediatrics, Graduate School of Medicine, Nippon Medical School
Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital

Lissencephaly is a type of cortex convolution malformation caused by a neuronal migration disorder in early fetal development. It is characterized by a thick cortex and agyria (absence of gyri) or pachygyria (broad gyri) on the brain surface. Clinical manifestations include severe mental retardation and intractable epilepsy. Here, we report a four months old boy with lissencephaly started focal seizures in a patient aged 3 months who was treated with 2 anticonvulsants. Spasms and regression of psychomotor development were present from 6 months of age. West syndrome was diagnosed on the basis of the types of seizures and electroencephalographic findings (hypsarrhythmia). Treatment with ACTH was started in an attempt to control the spasms. Decreases in convulsive seizures and recovery of regressed psychomotor development were subsequently noted. However, convulsive seizures recurred when the ACTH was tapered. The epileptic seizures accompanying lissencephaly thus appear to be intractable.

日医大医会誌 2008; 4(2), 123-126

Key words
lissencephaly, focal seizure, West syndrome, ACTH therapy

Correspondence to
Miharu Hajikano, Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki, 211-8533, Japan
E-mail：miharu@nms.ac.jp

受付：2007年7月9日　受理：2008年1月31日