Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia

Pellegrino M,Battaglia D,De Santis M,Visconti D,Luciano R,Lanzone A,Rosati A

doi:10.18314/ipcc.v2i1.1695

Abstract

Classic lissencephaly is a rare and serious brain malformation classified in type 1 and type 2. Type 1 is associated with mutations in the human LIS1 gene, which are numerous and constantly discovered. We present a case of isolated fetal ventriculomegaly with subsequent and unexpected diagnosis of neonatal lissencephaly. The clinical manifestation does not match the genotype, often associated with cerebellar hypoplasia.

Highlights

Classic lissencephaly is a rare brain malformation caused by defective neuronal migration during embryonic development
The classical form is linked to a primitive neuronal migration failure, in contrast, the second type is attributed to a defect of the pial-glial layer of the brain, which causes an abnormal neuroglial overmigration into the arachnoid space resulting in the formation of an extracortical layer responsible for the agyria and/or a “cobblestone” surface of the brain with ventricular enlargement [1]
It is reported that type I is associated with heterozygous deletions or intragenic mutations in the LIS1 gene

Summary

Case Report

Integrative Pediatrics and Child Care Lissencephaly: Variant of LIS1 without Cerebellar. Pellegrino M1,*, Rosati A1, Battaglia D2, De Santis M1,3, Luciano R4, Lanzone A1,3 and Visconti D1. Received date: March 26, 2019; Accepted date: April 30, 2019; Published date: May 06, 2019

Introduction

Case Presentation

Discussion and Conclusion