Case Report: An infant with agenesis of the corpus callosum (AgCC) with normal developmental milestones

Abstract

Background: Agenesis of the corpus callosum (AgCC) is a unique and rare brain malformation that can have long-term effects on the cognitive and neurological development of those affected. Individuals with AgCC must undergo regular neuropsychological screening to secure conceivable problems and diagnose and tackle them at the appropriate times. Case report: This case is of a male-term infant born through vaginal delivery to a primigravida mother. Antenatal history was insignificant. Fetal Ultrasonography (USG) done at 24 weeks of gestation showed AgCC. The risk factor was explained to the parents, but they wanted to continue the pregnancy. The infant was delivered at term gestation and weighed 2500 gm. The baby was discharged from the hospital and was advised for follow-up. On follow-up, milestones were normal. Magnetic resonance imaging (MRI) of his brain at 24 months during follow-up showed total AgCC. Surprisingly, milestones were not delayed for his age, so he was advised to screen for neurocognitive in the subsequent follow-up. Discussion: AgCC is typically diagnosed through antenatal MRI or genetic testing, but it may be isolated in cases where no additional anomalies are present. It is also associated with various hereditary syndromes, and prenatal diagnosis through Ultrasonography (USG) can be performed between 18 and 22 weeks of gestation to identify features suggestive of AgCC so that early intervention can be done. Though we do not have exact treatment, supporting treatment is equally important to combat further complications. Conclusions: Despite diagnostic tools for AgCC, many physicians are not familiar with the neurological and cognitive features of AgCC, which can lead to delayed management and treatment. Therefore, medical professionals must receive education and training on this condition to manage individuals with AgCC and receive the most supportive care they need.