Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?

Abstract

Intracranial calcification has a variety of etiologies; among those are environmental and metabolic disturbances involving calcium homeostasis. The main environmental factors resulting in intracranial calcification are congenital infections with toxoplasmosis, and cytomegalovirus. There are increasing reports on cases showing pictures of congenital infection in the absence of confirmative positive TORCH screen, and there are many cases reported worldwide sharing the same presentation labeled as autosomal recessive congenital infection-like syndrome or pseudo-TORCH syndrome (OMIM 600158).