Type 1 Lissencephaly with Ocular Abnormality and Cranial Nerve Palsies

Departments of Pediatrics, Ophthalmology, Dongguk University College of Medicine, Gyeongju, Korea Lissencephaly is a cerebral cortical malformation characterized by partial to total loss of gyri and sulci of brain leading to mental retardation and epilepsy. It is caused by failure of division and migration of neural cell in early embryonic period. Microdeletion or point mutation of LIS1 gene is mostly associated with type 1 lissencephaly. A newborn who presented abnormal face and unilateral facial nerve palsy was born and showed near complete agyria on brain MRI. She also has other cranial nerve palsies and ocular abnormalities (aniridia, microcornea and optic disc coloboma). Although we could not found a deletion of LIS1 gene, a case of type 1 lissencephaly with ocular abnormality and cranial nerve palsies is very rare. Therefore we report this case with literature investigations.