Congenital infection-like syndrome with intracranial calcification

Abstract

Congenital infection-like syndrome includes multiple disorders. Although novel syndromes have recently been described and their genetic defects identified, many cases remain unclassified. Here we report a patient with neuroradiologic findings of intracranial calcification and cerebellar hypoplasia, and clinical features of growth retardation, progressive pancytopenia, interstitial pneumonia, and immune abnormality. Our patient had a phenotypic overlap with Aicardi-Goutières syndrome and Hoyeraal-Hreidarsson syndrome, despite the absence of mutation in their responsible genes.