Three Cases of Primary Microcephaly Associated with Epilepsy

Abstract

Human autosomal recessive primary microcephaly (MCPH) is a rare disorder in which the head circumference is reduced because of a congenital deficiency of fetal brain growth, particularly affecting the cerebral cortex. The MCPH brain, although small, is structurally normal, and the phenotypic result is mental retardation without any other neurological defect or epilepsy. We reported three cases of MCPH aged 11 months to 4 years associated with epilepsy. All three cases exhibited symptomatic localization-related epilepsy (frontal lobe) and their seizure types were complex partial seizures or secondary generalized tonic seizures. Seizures in two of three cases were well controlled by valproic acid, but one case had intractable epileptic seizures. Genetic malformations of the cerebral cortex have been recognized in recent years as a major underlying cause for epilepsy in pediatric patients. Different types of cortical malformation may show different epileptogenicity.