X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY - A NEW FAMILY

Magnetic resonance imaging (MRI) has enabled the identification of neu ronal migration disorders in living subjects. This represents an impor tant achievement in the diagnosis of patients with these anomalies. At least five affected families with coexistent subcortical laminar hete rotopia and lissencephaly have been reported recently. This associatio n suggests an X-linked pattern of inheritance. In the family that we r eport, the mother suffered from epilepsy and the oldest daughter from epilepsy and mental retardation. Both patients showed subcortical lami nar heterotopia on MRI. The youngest son presented a severe encephalop athy with early onset seizures, and was found to show lissencephaly on MRI. The other two siblings, a boy and a girl, had no neurological ab normalities. The severity of these patients' clinical symptoms were cl early related to MRI findings.