Corpus callosum agenesis

Synonyms

1

Overview

Agenesis of the Corpus Callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of the brain, fails to develop normally, typically in utero, resulting in disconnected brain hemispheres. The development of the fibers which would otherwise form the corpus callosum become longitudinally orientated within each hemisphere and form structures called Probst Bundles.

Symptoms

Symptoms may appear in infants or children or may be milder in later life.

• Seizures
• Feeding problems
• Developmental delay
• Delayed head control

Causes

Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 5th and 16th week of pregnancy. In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders.

Diagnosis

Callosal disorders can only be diagnosed through a brain scan. They may be diagnosed through an MRI, CT Scan, prenatal ultrasound, or prenatal MRI.

Prognosis

Prognosis varies depending on the type of callosal abnormality and associated conditions or syndromes. It is not possible for the corpus callosum to regenerate or degenerate (i.e., the corpus callosum will not regrow or diminish).. Although some individuals with callosal disorders have average intelligence and lead normal lives, neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC.

Treatment

There are currently no specific medical treatments for callosal disorders, but individuals with ACC and other callosal disorders may benefit from a range of developmental therapies, educational support, and services. It is important to consult with a variety of medical, health, educational and social work professionals. Such professionals include neurologists, neuropsychologists, occupational therapists, physical therapists, speech-language pathologists, pediatricians, geneticists, special educators, early intervention specialists, and adult service providers.