Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation

Abstract

Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report on a case of LCH whose clinical and neuroradiological features led to the identification of a homozygous pathogenic variant in RELN gene that has not been previously reported in the scientific literature.

Keywords: Case report; Cerebellar hypoplasia; Cortical malformation; Lissencephaly; RELN gene.