Clinical spectrum of cortical dysplasia in childhood: Diagnosis and treatment issues

Disorders of cortical development form a spectrum of lesions produced by in sults to the developing neocortex. These conditions typically first manifes t in childhood with epilepsy, developmental delay, and focal neurologic sig ns. Although the clinical and electrophysiologic findings are often nonspec ific, high-resolution magnetic resonance imaging facilitates diagnosis duri ng life, and assists in delineating specific clinical syndromes. While many patients are dysmorphic and severely affected by mental retardation and ep ilepsy, some have normal or near-normal cognitive function and no seizures. Molecular studies of dysplastic cortex are providing new insights into the basic mechanisms of brain function and development, while pathologic analy sis of tissue removed at surgery is helping to define epileptic circuitry. Treatment of the epilepsy associated with cortical dysplasia is often frust rating, but surgical approaches based on accurately defining epileptogenic regions are proving increasingly successful. Genetic diagnosis is important for accurate counseling of families.