pseudo-TORCH syndrome

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pseudo-TORCH syndrome2016-12-03T07:57:11+00:00

pseudo-TORCH syndrome

GENETICS, NEUROLOGY

An autosomal recessive neurologic disorder (OMIM:251290) with clinical and neuroradiologic features mimicking intrauterine TORCH infection, in absence of infection. Clinical findings include congenital microcephaly, intracranial calcifications, and severe developmental delay.

Molecular pathology Defects of OCLN, which encodes an integral membrane protein required for cytokine-induced regulation of the tight junction paracellular permeability barrier, cause pseudo-TORCH syndrome. 

Synonym Band-like calcification with simplified gyration and polymicrogyria

References http://www.uniprot.org/uniprot/Q16625

http://www.omim.org/entry/251290

 

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