Background:
Congenital cytomegalovirus (cCMV) infection of the central nervous system (CNS) can cause ventriculomegaly, gliosis, calcifications and cortical defects. Detection of CMV DNA in cerebrospinal fluid by PCR (CSF-CMV-PCR) is a marker of CNS involvement.
Objective:
To evaluate a diagnostic value of the positive CSF-CMV-PCR in cCMV.
Methods:
Analysis of clinical, laboratory, neuroimaging and single-nucleotide polymorphisms (SNPs) data according to the results of CSF-CMV-PCR were performed in infants with cCMV.
Results:
A total of 168 infants were included; 145 (86.3%) had negative and 23 (13.7%) had positive CSF-CMV-PCR results. Associations between the positive CSF-CMV-PCR results and prematurity (odds ratio [OR] = 3.24; 95% confidence interval [CI]: 1.30–8.07), microcephaly (OR = 5.67; 95% CI: 2.08–15.41), seizures (OR = 4.15; 95% CI: 1.10–15.67), sensorineural hearing loss (OR = 6.6; 95% CI: 2.49–17.46), splenomegaly (OR = 8.13; 95% CI: 3.12–21.16), hepatitis (OR = 10.51; 95% CI: 3.31–33.35), petechiae (OR = 10.21; 95% CI: 3.78–27.57) and heterozygous T/C genotype at TLR4rs4986791 (OR = 7.88; 95% CI: 1.55–40.12) were observed. When using a multivariate logistic regression analysis, only the presence of severe sensorineural hearing loss (OR = 7.18; 95% CI: 1.75–29.34, P = 0.006), cystic lesions on MRI (OR 5.29; 95% CI: 1.31–21.36, P = 0.02), and calcifications on MRI (OR = 7.19; 95% CI: 1.67–30.97, P = 0.008) remained as the significant independent predictors of the positive CSF-CMV-PCR results.
Conclusions:
The detection of CMV DNA in CSF is associated with a higher rate of CNS damage including abnormal MRI neuroimaging and severe hearing loss. Therefore, detection of CMV DNA in CSF may be considered as a marker of severe CNS injury in cCMV infection. However, the very low prevalence of the positive CSF-CMV-PCR results, even in infants with proven CNS involvement, may imply its limited role in clinical practice.