ICNC Abstracts, ICNC 2018

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pseudo TORCH syndrome – Recessive mutation in occludin ( OCLN ) gene
shriganesh patil

Last modified: 2018-09-09

Abstract


Band like calcification with simplified gyration and polymicrogyria is rare autosomal

recessive disorder showing characteristic clinical and radiological features. affected

individuals demonstrate seizures, microcephaly,and developemental delay with

bilateral, symmetrical polymicrogyria and band of gray matter calcification of brain

imaging, as such disorder can considered as "pseudo- TORCH" syndome. by using

DNA tesing we indetified mutation in OCLN gene.OCLN gene encodes occludin, an

integral componant of tight junctions. tight junctions are functional in cerebral blood

vessels early in fetal developement and continue to play vital role in maintainance of

blood brain barrier during post natal life


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