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