Agenesis of corpus callosum

Agenesis of the Corpus Callosum (ACC) is a rare birth defect that affects the structure of the brain. In individuals with ACC, the corpus callosum, a bundle of nerve fibers that connects the left and right hemispheres of the brain, is partially or completely absent. This condition can occur as an isolated condition or in combination with other cerebral abnormalities or systemic malformations.

Causes

The exact cause of ACC is not known. However, it is believed to be associated with a disruption in the development of the fetal brain during pregnancy. This can be due to genetic factors, infections, or exposure to harmful substances. Some genetic disorders, such as Aicardi syndrome and Arnold-Chiari malformation, are known to be associated with ACC.

Symptoms

The symptoms of ACC can vary greatly among individuals. Some people may have mild symptoms, while others may have severe neurological problems. Common symptoms include developmental delay, intellectual disability, seizures, and problems with coordination. Some individuals with ACC may also have other physical abnormalities, such as facial features that are not typical.

Diagnosis

ACC is typically diagnosed through imaging studies of the brain, such as MRI or CT scan. These tests can show the absence or underdevelopment of the corpus callosum. In some cases, ACC may be detected before birth through a prenatal ultrasound.

Treatment

There is no cure for ACC, and treatment is symptomatic and supportive. This may include physical therapy, occupational therapy, and speech therapy to help with developmental delays. Medications may be used to control seizures. In some cases, surgery may be needed to treat associated conditions.

Prognosis

The prognosis for individuals with ACC varies widely and depends on the severity of the condition and the presence of associated disorders. Some individuals with ACC lead normal lives, while others may have significant developmental delays and physical disabilities.

See also

• Brain
• Birth defect
• Aicardi syndrome
• Arnold-Chiari malformation