Pseudo-TORCH syndrome-1 (PTORCH1) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, 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.
Genetic Heterogeneity of Pseudo-TORCH Syndrome
See also PTORCH2 (617397), caused by mutation in the USP18 gene (607057) on chromosome 22q11, and PTORCH3 (618886), caused by mutation in the STAT2 gene (600556) on chromosome 12q13. [from
OMIM]