A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.