Agenesis of the Corpus Callosum

Agenesis of the corpus callosum (ACC) is a rare abnormality. It is a partial or complete absence of the corpus callosum. The corpus callosum is an area of the brain. The corpus callosum connects 2 sides of the brain (cerebral hemispheres). This abnormality is present at birth (congenital).

SYMPTOMS

The first symptoms of ACC are usually:

  • Convulsions (seizures). These may be caused by a very common disorder associated with ACC. It is called infantile spasms.

  • Feeding problems.

  • Delays in being able to:

  • Hold up the head.

  • Stand.

  • Sit.

  • Walk.

Other symptoms may include:

  • Impaired mental and physical development.

  • Impaired hand-eye coordination.

  • Visual and auditory memory problems.

  • Buildup of fluid in the brain (hydrocephaly).

In mild cases, symptoms may not appear for years. These include:

  • Seizures.

  • Repetitive speech.

  • Headaches.

Female children may also have:

  • Aicardi's syndrome. It includes:

  • Severe mental retardation.

  • Lesions of the retina of the eye (chorioretinal lacunae).

DIAGNOSIS

In most patients, ACC is diagnosed within the first 2 years of life. It may occur as:

  • A severe syndrome in infancy or childhood.

  • A milder condition in young adults.

  • Showing no symptoms but found accidentally.

  • An isolated condition.

  • In combination with other brain problems.

ACC is sometimes associated with:

  • Defects in multiple body systems.

  • Genetic defects.

  • Non-nervous system problems.

  • May occur with or without genetic problems.

TREATMENT

There is no standard course of treatment for ACC.

  • Treatment usually involves management of symptoms if they occur, such as:

  • Hydrocephaly.

  • Seizures.

PROGNOSIS

ACC does not cause death in the majority of patients. Many children with the disorder will lead normal lives. They can also have average intelligence. But careful testing shows some subtle differences. These are differences in intelligence and memory compared to individuals of the same age and education without ACC. Children with ACC and developmental delay and/or seizure disorders should be screened for metabolic disorders. Mental retardation is non progressive.