Pseudo-TORCH syndrome

Definition:

Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually seen when congenital infection occurs (TORCH syndrome), but no infectious agents are detected in BLC-PMG (pseudo-TORCH syndrome). Affected individuals show early-onset seizures and severe microcephaly.

References:

[1]. Christopher J A Duncan, et al. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci Immunol. 2019 Dec 13;4(42):eaav7501. [Content Brief]

[2]. Marije E C Meuwissen, et al. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 2016 Jun 27;213(7):1163-74. [Content Brief]

[3]. Mary C O'Driscoll, et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10;87(3):354-64. [Content Brief]

[4]. T A Briggs, et al. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. [Content Brief]

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