An Infant with Respiratory Distress and Loose Stools

ABSTRACT

We present the case of a 3-month-old girl who was admitted with complaints of loose stools and respiratory distress. She also had ahistory of rash and alopecia. Laboratory investigations revealed lymphopenia with reduced immunoglobulin G and immunoglobulin A.Lymphocyte subset analysis by flow cytometry revealed T-B+NK+ severe combined immunodeficiency (SCID). She died due to severepneumonia, shock and pulmonary hemorrhage. Autopsy findings revealed disseminated cytomegalovirus infection in the lung, liver,adrenals and heart. Thymus was found to be dysplastic and showed characteristic histopathologic features of SCID.