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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.

A Japanese Boy with Lissencephaly I First Diagnosed by Manifestation of Focal Seizures and Accompanied West Syndrome