GTR Home > Conditions/Phenotypes > Band-like calcification with simplified gyration and polymicrogyria


Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. The disorder has sometimes been referred to as pseudo-TORCH syndrome. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). Crow et al. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features. [from OMIM]

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