The neurons in heterotopia are otherwise healthy; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter.
[2] The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function.
Symptoms vary in severity; the condition is occasionally discovered as an incidentaloma when brain imaging performed for an unrelated problem and has no apparent ill effect on the patient.
Therefore, nervous tissue develops ladders made of radial glial cells that neurons climb, through the previous layers, to reach their proper destination.
Affected patients are generally divided into three groups, depending on the location of the formation: subependymal, subcortical, and band heterotopia.
Band heterotopia, a form of the condition (also known as double cortex syndrome),[6] is seen exclusively in women; men with a mutation of the related gene (called XLIS or DCX) usually die in utero or have a much more severe brain anomaly.
Patients with focal subcortical heterotopia have a variable motor and intellectual disturbance depending on the size and site of the heterotopion.
Detection of heterotopia generally occurs when a patient receives brain imaging—usually an MRI or CT scan—to diagnose seizures that are resistant to medication.
Correct diagnosis requires a high degree of radiological skill, due to the heterotopia's resemblance to other masses in the brain.