Persistent CMV in Brain Tissue of a Patient with Congenital CMV Following Resolution of Viremia

Objective: We describe two cases of persistent CMV positivity in resected brain tissue of patients with congenital CMV despite resolution of viremia Background: Cytomegalovirus is the most common congenital viral infection, with 30,000 affected infants born in the United States annually and is the leading non-genetic cause of hearing loss and developmental delay. Patients classically present with hepatosplenomegaly, thrombocytopenia, petechiae, and jaundice as well as a range of neurological symptoms such as hearing loss, vision loss, developmental delay, epilepsy, microcephaly, and brain malformations. However, many patients present with neurologic symptoms either in isolation or out of proportion to systemic findings. Design/Methods: Not applicable. Results: We describe the cases of two female patients with congenital CMV. As neonates one was asymptomatic and the other had only a mild petechial rash. However, within the first year of life they were noted to have sensorineural hearing loss, developmental delay, and structural brain anomalies including polymicrogyria and microcephaly. One was diagnosed with congenital CMV by retrospective testing of the dried blood spot from her newborn screen and the other via urine culture at 32 days. Serum CMV PCR was negative in the first patient. The second was initially positive and dropped to undetectable levels by 9 months. Both developed medically refractory focal seizures requiring hemispherectomy. Interestingly CMV PCR of resected brain tissue was positive in each patient despite negative serum tests suggesting the presence of viral persistence in brain tissue. Conclusions: These cases highlight the potential for different mechanisms and disease trajectories in CNS and peripheral tissues in congenital CMV. Whether detection of CMV DNA in brain tissue from these patients represents ongoing active infection or latent viral infection is not known. Further research into cases such as these may provide insight into divergent severities between CNS and peripheral manifestations seen in patients with congenital CMV. Disclosure: Dr. Kuerbitz has nothing to disclose. Dr. Demmler Harrison has received personal compensation in the range of $0-$499 for serving as a Consultant for Moderna. Dr. Demmler Harrison has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Moderna. Dr. Demmler Harrison has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for WebMD Medscape. The institution of Dr. Demmler Harrison has received research support from Merck. The institution of Dr. Demmler Harrison has received research support from Microgen. Dr. Demmler Harrison has received publishing royalties from a publication relating to health care. Dr. Demmler Harrison has received publishing royalties from a publication relating to health care. Dr. Emrick has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Arkema. The institution of Dr. Emrick has received research support from Lysogene. The institution of Dr. Emrick has received research support from PTC. The institution of Dr. Emrick has received research support from Roche. The institution of Dr. Emrick has received research support from NIH.