Pseudo-TORCH syndrome
Pseudo-TORCH syndrome
Definition
A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
Also known as band-like calcification with simplified gyration and polymicrogyria, Baraitser-Brett-Piesowicz syndrome, Baraitser-Reardon syndrome, bilateral band-like calcification with polymicrogyria, BLC-PMG, microcephaly-intracranial calcification-intellectual disability syndrome, pseudo-TORCH syndrome — per MONDO