June 2005

A 2-day-old infant is noted to have purple lesions scattered on the skin in addition to jaundice. He was born by spontaneous vaginal delivery at 36 weeks gestation and had a birth weight of 1,900 gms.

He is breast-fed and has adequate urine output. On physical examination he is noted to have enlargement of his liver and spleen. His mother is unaware of any infections during her pregnancy; however, she is a nurse at a children’s hospital. What tests do you recommend to make the diagnosis? What is the differential diagnosis for infants with this disorder?

Answer

The infant has a congenital infection with cytomegalovirus (CMV).

CMV, a DNA virus, is a member of the herpes virus group. Transmission to infants can occur three ways: 1) transplacental spread of the virus, 2) exposure at birth to the mother’s infected cervix and 3) ingestion of CMV-positive human milk. Approximately 10% of those infants with congenital infections have severe disease.

Cutaneous findings include the following: “blueberry muffin” lesions from extramedullary hematopoiesis, which may be widespread petechial lesions or purpuric papules, and jaundice.

Other clinical findings are intrauterine growth retardation, hepatosplenomegaly, microcephaly, neurosensory hearing loss, neurologic abnormalities and retinitis. Laboratory findings are hemolytic anemia, thrombocytopenia and intracerebral calcifications.

A positive culture from the urine and saliva is still considered the gold standard for diagnosis. Newer molecular diagnostic methods to diagnose congenital CMV infection, including the nucleic acid amplification of viral DNA from the peripheral blood of infants, are being investigated.

The differential diagnoses are other congenital infections (toxoplasmosis, rubella, herpes simplex virus infections and syphilis). Toxoplasmosis may have many similar findings, but additionally may have a maculopapular eruption. Rubella is associated with cataracts and congenital heart disease. Cutaneous findings in herpes simplex virus infections include grouped vesicles and erosions. Desquamation, a papulosquamous rash, rhagades and condyloma lata can be seen in congenital syphilis.

Treatment with antiviral therapies does not have statistically proven efficacy. Supportive therapy is recommended until further studies are completed.

Isolating children with CMV is not recommended; however, pregnant hospital personnel and pregnant child care workers and teachers should be properly educated and use appropriate hygienic precautions.

Source: Patricia Treadwell, MD

For more information:

• Meier J, Lienicke U, Tschirch E, et al. Human cytomegalovirus reactivation during lactation and mother-to-child transmission in preterm infants. J Clin Microbiol. 2005;43:1318-1324.
• Morgan MA, El-Ghany el-SM, Khalifa NA, et al. Prevalence of cytomegalovirus (CMV) infection among neonatal intensive care unit (NICU) and healthcare workers. Egypt J Immunol. 2003;10:1-8.
• Picone O, Costa JM, Chaix ML, et al. Human cytomegalovirus UL144 gene polymorphisms in congenital infections. J Clin Microbiol. 2005;43:25-29.
• Schleiss MR. Antiviral therapy of congenital cytomegalovirus infection. Semin Pediatr Infect Dis. 2005;16:50-59.