Disseminated Cytomegalovirus Infection in a Patient with RAG2 Mutation SCID Transmitted via Breast Feeding: A Case Report and Review of Literature

Abstract

Abstract: Cytomegalovirus (CMV) infection poses a serious threat to immunocompromised patients in early life. Transmission of CMV to newborn via breastfeeding is a recognized mode. In our case, the affected child presented with the aftermaths of CMV infection affecting gastrointestinal tract (GIT) and central nervous system (CNS) with over-whelming viral replication and via ingestion of infected breast milk many times a day. Worsening clinical manifestations prompted the investigations for a possible primary immune deficiency (PID) disorder, and rising CMV copies in blood despite institution of anti-CMV therapy led to check other body fluids of the infant. There were no viral copies detected in mother’s blood sample; so breast milk was tested to identify the source of CMV being transmitted to him. Here we describe an unusual case of RAG2 gene mutation induced PID presenting clinically as severe combined immunodeficiency (SCID) phenotype rather than Ommen’s syndrome, and acquired CMV infection via breast milk.