Lissencephaly Type I Associated with Lennox-Gastaut Syndrome in a 20-Year-old man : a Case Report

Lissencephaly is associated with various types of intractable epilepsy. However, complication by Lennox-Gastaut syndrome is rare. We report an adult patient with Lissencephaly type I complicated by Lennox-Gastaut syndrome, along with a review of the literature. Although mild asphyxia was noted in the history of birth, there were no recognized multiple anomalies. His developmental milestones were severely delayed. Partial seizures frequently occurred at the age of 2 months. Brain CT revealed a smooth surface of the brain cortex, and so he was diagnosed with type I lissencephaly. He was treated with several kinds of oral administrations of anti-convulsants, such as phenobarbital, valproric acid, and clonazepam, but progressed into infantile spasms with West syndrome. At the age of 20, he was repeatedly hospitalized due to respiratory infection, and aspiration pneumonia with diffuse aspiration bronchitis. Deformity of the thorax and ventilation disorder associated with severe scoliosis and respiratory muscle atrophy were also noted. His epilepsy was intractable, and tonic and axial seizures repeatedly occurred for a prolonged period. On electroencephalography, a high-amplitude 1.5-Hz spike-and-slow wave complex was dominant in the frontal region, and a rapid rhythm also appeared, based on which Lennox-Gastaut syndrome was diagnosed. Epileptic surgery and tracheotomy were recommended to his parents, but they did not consent. The patient died of rapid aggravation of respiratory infection and the frequent occurrence of epileptic seizures, in addition to chronic respiratory disorder, at 20 years of age