Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation
Liliana Igreja1, Catarina Menezes2, Pedro S Pinto1
1Department of Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Pediatric Neurology
|October 25, 2023
Abstract
None:
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.


