Agenesis of the Corpus Callosum, Cardiac, Ocular, and Genital Syndrome with Interhemispheric Cyst in an Infant: A Case Report

In rural India, it is fairly common for infants to be brought in with symptoms such as failure to gain weight and a history of recurrent respiratory tract infections. Congenital Heart Disease (CHD) is often associated with various syndromes, including Down syndrome, Turner syndrome, Holt-oram, and others. It is widely understood and practiced to investigate for other systemic and congenital anomalies when a child is suspected or diagnosed with CHD or any other congenital condition. On the other hand, one of the most prevalent malformations of the cerebral cortex involves the corpus callosum. The corpus callosum consists of white matter tracts that connect the left and right cerebral hemispheres. Agenesis of the Corpus Callosum (ACC), which can be partial or complete, may occur alone or in combination with other cerebral abnormalities. It can manifest as hypoplasia or complete absence of the corpus callosum. In the present case report, the authors present a three-month-old infant who presented with complaints of failure to gain weight and a history of convulsions despite being on anticonvulsant medication. Further evaluation revealed complete agenesis of the corpus callosum on Magnetic Resonance Imaging (MRI). Additional examination findings included microcephaly, left-sided microphthalmia, low-set ears, retrognathia, suggesting a dysmorphic facies, and a left-sided inguinal hernia. The patient was also diagnosed with Patent Ductus Arteriosus (PDA) based on a 2D echo. The presence of multiple systemic anomalies in the present case makes it a rare occurrence, with only a few similar cases reported.