Arushi Gahlot Saini¹, Vikas Chauhan¹, Pradeep Gunasekaran¹, Renu Suthar¹, Sameer Vyas¹, Vikas Bhatia¹, Jitendra Kumar Sahu¹, Naveen Sankhyan¹
1- PGIMER, Chandigarh, India
Abstract Body
Objectives: To describe the clinical, neuroimaging, and functional outcome spectrum of children with symptomatic congenital CMV infection presenting with white matter abnormalities.
Methods: We conducted a cross-sectional observational study at a tertiary pediatric neurology center (Jan 2018-Dec 2019), including children aged 1 month to 14 years with confirmed or probable congenital CMV infection. Children with inherited leukodystrophies or other chronic neurological disorders were excluded. Clinical features, laboratory findings, andbrain MRI data were collected, and functional outcomes were assessed using the Expanded Disability Status Scale (EDSS) at a minimum follow-up of three months.
Results: Twenty-six children were included (mean age 17±21.9 months; 19 males, 73%).Microcephaly was present in 20 (77%), developmental delay in 14 (54%), seizures in 8 (30%), and sensorineural hearing loss in 8 (30%). MRI (n=21) revealed universal white matter involvement: diffuse in 9 (43%), multifocal in 5 (24%), confluent in 3 (14%), and patchy in 1 (5%); periventricular location predominated (9, 43%), followed by subcortical (5, 24%). Cystic degeneration was observed in 5 (19%), and gray matter involvement was uncommon (3, 14%). Follow-up data were available for 17 children (65%), of whom 12 (71%) had moderate-tosevere functional disability (EDSS ≥5). Common sequelae included cerebral palsy in 9 (53%), persistent epilepsy in 7 (41%), and sensorineural hearing impairment in 5 (29%).
Conclusions: Symptomatic congenital CMV infection can closely mimic leukodystrophies in children presenting beyond infancy . Recognition of this pattern is critical to avoid unnecessary investigations, enable early diagnosis, and implement targeted developmental surveillance.