Agenesis of the corpus callosum (ACC) is one of the most common congenital brain anomalies with variable associations and outcomes. The incidence of ACC varies from 1.8 per 10,000 live births in normal children to as high as 600 per 10,000 in children with neurodevelopmental problems. Here, we report the case of a female neonate delivered in our institute at term gestation to a gravida 4 mother with partial ACC. The neonate was antenatally diagnosed with ACC. The mother had a previous fetus with a supratentorial cyst that was medically terminated. The neonate had a normal clinical examination, but the ultrasound of the cranium suggested ACC. Given the significant family history, a clinical exome sequencing test revealed a pathogenic frameshift mutation in the ARX gene that causes Proud syndrome. We discuss the relevant points in the diagnosis, workup, and prognosis of ACC through this case. This case highlights the importance of antenatal assessment for timely amniocentesis and a genetic diagnosis to guide the parental decision for continuation of the pregnancy, level 2 scans to detect associated anomalies, and postnatal assessment to determine the cause and prognosis of a neonate with ACC.
Keywords: arx gene; corpus callosum agenesis; neonate; proud syndrome; x-linked inheritance.
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