Teaching NeuroImage: Progressive Intracranial Calcifications and Pulmonary Disease in an Infant, Consistent With Type I Interferonopathy

A 2-month-old infant developed respiratory failure due to pneumocystis, cytomegalovirus, and Aspergillus pneumonia, suggesting immunodeficiency.Although screening head CT at 3 months for disseminated infection was normal, motor delay without focal neurologic deficits prompted repeat CT at 10 months, revealing progressive calcifications in the basal ganglia and cerebellum (Figure 1).At 11 months, serologic testing for toxoplasmosis, rubella, cytomegalovirus infection, and herpes simplex virus infection, endocrine/metabolic screening for intracranial calcification, and primary immunodeficiency evaluation were unrevealing; infections were attributed to airway-barrier disruption.