Necrotizing Retinitis Secondary to Congenital Cytomegalovirus Infection Associated with Severe Combined Immunodeficiency

Abstract

A 20-day-old male infant who was born at 39 weeks of gestation was admitted to neonatal intensive care unit due to severe respiratory insufficiency. In retinal examination, peripheric retinal white-black color areas that correspond to necrotizing retinitis, moderate vitritis, macular and optic nerve head involvement, vascular leakage, and sheathing indicating perivasculitis were revealed. Despite the fact that CMV specific IgM was undetectable, CMV DNA with high viral load was found in his blood sample by means of real-time polymerase chain reaction assay. Serologic examination (IgM) for rubella, toxoplasma, herpes simplex type 2, and human immunodeficiency virus (anti-HIV) was negative. During the further evaluation for systemic immune dysfunction, decreased immunoglobulin and lymphocyte levels that confirm the diagnosis of severe combined immunodeficiency have been reached. Although given systemic intravenous ganciclovir and antibiotics treatment, the patient died at the 4th month of life due to respiratory insufficiency.