Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report

Abstract

Corpus callosal agenesis (CCA) is a rare congenital disorder characterized by the partial or complete absence of the corpus callosum, a structure crucial for interhemispheric communication. CCA can occur in isolation or be associated with other anomalies such as heterotopia, holoprosencephaly, cerebellar hypoplasia, coloboma, and hydrocephalus. The prevalence of CCA ranges from 0.020% to 0.025%, though some reports suggest higher rates. This case report describes a 1-year-old male with developmental delays and no significant antenatal or family history. MRI revealed a complete absence of the corpus callosum, asymmetrically dilated lateral ventricles, subependymal gray matter nodules suggestive of gray matter heterotopia, and bilateral posterior globe defects with vitreous herniation, indicating severe ocular anomalies. The child received supportive care including physical therapy and special education services, with regular follow-ups for developmental and ophthalmologic evaluation. This case report details the rare occurrence of CCA, accompanied by gray matter heterotopia and bilateral posterior eye coloboma in a pediatric patient. The combination of these congenital anomalies presents unique diagnostic and management challenges requiring multidisciplinary care. We discuss the clinical presentation, radiological findings, and implications for supportive care and improving the prognosis.

Keywords

• Corpus callosal agenesis
• Coloboma
• Case report
• Heterotopia
• Magnetic resonance imaging