Corpus Callosum Malformations

Corpus callosum malformations represent one of the most common congenital malformations of the central nervous system detected prenatally. Several abnormalities can affect the corpus callosum including complete or partial agenesis as well as dysgenesis. These malformations may occur in isolation or be associated with a broad spectrum of cranial or extracranial anomalies or genetic disorders. Among the most prevalent brain malformations associated with this condition are malformations of cortical development, ventriculomegaly, and posterior fossa anomalies. Additionally, both chromosomal and single-gene disorders have been identified in fetuses affected by corpus callosum malformations. The initial diagnostic approach typically involves ultrasound and magnetic resonance imaging to identify and classify corpus callosum malformations, as well as to detect associated cerebral and/or extracerebral anomalies. Invasive genetic testing may also be employed to confirm or rule out the presence of any genetic syndromes. The prognosis of this condition varies widely, ranging from favorable neurodevelopmental outcomes to severe neurologic disability. Fetuses with isolated corpus callosum malformations generally have a good prognosis. However, the presence of additional cranial or extracranial malformations and genetic syndromes are usually indicators of poor prognosis. In this chapter, we offer a comprehensive overview of the complicated landscape of corpus callosum malformations, exploring their embryology, etiology, diagnostic modalities, prognostic considerations, and management strategies.