Corpus Callosum - Absence and Malformations

Absence and Malformations

Agenesis of the corpus callosum (ACC) is a rare congenital disorder in which the corpus callosum is partially or completely absent. ACC is usually diagnosed within the first two years of life and may manifest as a severe syndrome in infancy or childhood, as a milder condition in young adults, or as an asymptomatic incidental finding. Initial symptoms of ACC usually include seizures, which may be followed by feeding problems and delays in holding the head erect, sitting, standing, and walking. Other possible symptoms may include impairments in mental and physical development, hand-eye coordination, and visual and auditory memory. Hydrocephaly may also occur. In mild cases, symptoms such as seizures, repetitive speech, or headaches may not appear for years.

ACC is usually non-fatal. Treatment usually involves management of symptoms, such as hydrocephaly and seizures, if they occur. Although many children with the disorder will lead normal lives and have average intelligence, careful neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC. Children with ACC accompanied by developmental delay and/or seizure disorders should be screened for metabolic disorders.

In addition to agenesis of the corpus callosum, similar conditions are hypogenesis (partial formation), dysgenesis (malformed), and hypoplasia (underdevelopment, including too thin).

Recent studies have also linked possible correlations between corpus callosum malformation and autism spectrum disorders (ASD).

Kim Peek, a savant and the inspiration behind the movie Rain Man, was found to be missing a Corpus Callosum.