The Role of MRI in Diagnosing Agenesis of the Corpus Callosum (ACC): A Rare Disorder Present at Birth

Abstract

Background: Agenesis of the corpus callosum (ACC) is a rare hereditary nervous system defect present at birth. ACC is an uncommon condition that is unrepresentative in the general population because some cases do not present with any identifiable symptoms in the early stage.

Case report: We present a case of ACC in a two-month-old male patient who was diagnosed after birth. Although the initial brain ultrasound (US) showed dilation of the lateral ventricles and the absence of the corpus callosum, these findings were not fully confirmed. Therefore, magnetic resonance imaging (MRI) of the brain was conducted to confirm the complex diagnosis, and the examination revealed complete ACC. Diagnosing ACC in a neonate demonstrates the complexity of diagnosis through the clinical presentation, especially at an early age.

Conclusion: The clinical utility of neonatal US and MRI highlights the importance of an early diagnosis of ACC. MRI is more effective than the US in detecting this condition, and these imaging modalities provide the patient with an early diagnosis, which helps in treatment management.

Keywords: Agenesis of the Corpus Callosum (ACC); Diffusion Weighted Imaging (DWI); Magnetic Resonance Imaging (MRI); Radiology; Short Tau Inversion Recovery (STIR); Ultrasound.