Lissencephaly

  • Lissencephaly is neuronal migration disorder resulting in a thickened 4 layered cortex with reduced or complete absence of sulcations. “ Agyria” is a severe and rare malformation with complete absence of convolutions and smooth brain. “Pachygyria” is relatively less severe variant with reduced sulci and broadened gyral pattern. Microcephaly with lissencephaly is a specific subcategory and is referred to as MLIS ( microlissencephaly).The genomic landscape is extensive and comprises of LIS1 , DCX, TUBA1A, TUBA8, TUBB, TUBB2B,TUBB3, TUBG1, NDE1, KIF2A, KIF5C, CDK5, CRADD, ARX, ACTG1, ACTB, DYNC1H1, RELN & VLDLR genes. LIS1 mutations have a posterior predominance while anterior variants are observed in DCX related disorders. Dysmorphic basal ganglia, callosal anomalies, cerebellar hypoplasia , cataract and macrocephaly are some of the distinctive features that aid in narrowing down the list of lissencephaly related pathologies.

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Schizencephaly

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Cobblestone Malformation