Lissencephaly

Lissencephaly is a rare neuronal migration disorder characterized by smooth cerebral surfaces due to abnormal cortical layering. Clinical features include developmental delay, hypotonia, seizures, and craniofacial dysmorphism. Pathophysiology involves mutations in LIS1, DCX, and other genes critical for neuronal migration. Diagnosis relies on neuroimaging (MRI) demonstrating absent or reduced gyration. Management is supportive, including seizure control, physiotherapy, and developmental interventions; prognosis is generally poor, with significant cognitive and motor impairment.