Vol. 7, Issue 2, Part A (2025)

Background: CHARGE syndrome is a rare genetic disorder characterized by multiple congenital anomalies with an estimated incidence of 1 in 10,000 live births. We present comprehensive neuroimaging findings in a 6-month-old female infant with CHARGE syndrome, demonstrating the full spectrum of central nervous system, temporal bone, and craniofacial abnormalities.

Case Presentation: A 6-month-old female with congenital bilateral sensorineural hearing loss underwent comprehensive neuroimaging evaluation. Multimodality imaging including CT of the head, paranasal sinuses, temporal bones, and MRI of the brain revealed characteristic features of CHARGE syndrome including bilateral semicircular canal agenesis, cochlear hypoplasia, choanal atresia, bilateral ocular colobomas, optic nerve hypoplasia, olfactory bulb aplasia, and cerebellar abnormalities, confirming the diagnosis.

Conclusion: This case demonstrates the importance of comprehensive neuroimaging in the evaluation of CHARGE syndrome, highlighting both classic and less commonly reported findings that contribute to diagnosis and management planning in patients with congenital sensorineural hearing loss.