What are the other Names for this Condition? (Also known as/Synonyms)

• Absence of Corpus Callosum
• Corpus Callosum Hypogenesis
• Corpus Callosum Malformation

What is Agenesis of the Corpus Callosum? (Definition/Background Information)

• Agenesis of the Corpus Callosum (ACC) is a congenital defect in which the corpus callosum is either absent or not completely formed. Normally, the corpus callosum (a nerve fiber band) form during fetal development and it connects the two hemispheres of the brain
• Due to the lack of closure between the two hemispheres of the brain, individuals with Agenesis of Corpus Callosum suffer from intellectual abnormalities, ranging from mild to severe
• ACC is caused by disruption of brain development during the prenatal period. This disruption can be caused by many factors, including chromosomal errors, genetic predisposition, prenatal infection, or other harmful factors in the prenatal environment
• Corpus Callosum Agenesis can occur alone or in conjunction with other brain defects. However, it is often associated with other body malformations, most commonly of the face
• Signs and symptoms of Agenesis of the Corpus Callosum include vision and hearing impairments, seizures, facial abnormalities, development and language delays, poor muscle co-ordination, social immaturity, and difficulty with complex tasks
• Although treatment options are not currently available, with appropriate interventions, individuals with Agenesis of the Corpus Callosum can lead relatively normal lives.
• Currently, there are no known definitive measures to prevent the occurrence of ACC

Who gets Agenesis of the Corpus Callosum? (Age and Sex Distribution)

• Agenesis of the Corpus Callosum occurs prenatally (before birth) in both males and females
• Children are born with the condition, although symptoms may not become apparent until early adolescence
• ACC is a rare disorder that is observed worldwide; all racial and ethnic groups may be affected

What are the Risk Factors for Agenesis of the Corpus Callosum? (Predisposing Factors)

There are no definitive risk factors associated with Agenesis of the Corpus Callosum. A few possible factors include:

• Viral infections during the prenatal period
• Exposure to certain toxins during the prenatal period

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Agenesis of the Corpus Callosum? (Etiology)

Currently, many factors are thought to contribute to Agenesis of the Corpus Callosum; nevertheless, no definitive cause has been identified. A few potential contributing factors include:

• Inherited genetic mutations, chromosomal errors
• Viral infections during pregnancy
• Prenatal exposure to certain toxins
• Inherited metabolic disorders
• Injuries or the presence of other harmful factors during the prenatal period

What are the Signs and Symptoms of Agenesis of the Corpus Callosum?

The signs and symptoms of Agenesis of the Corpus Callosum include:

• Vision and hearing impairment
• Low muscle tone
• Facial abnormalities
• Seizures
• Developmental delays
• Language delays
• Poor motor coordination
• Social immaturity
• Obsessive compulsive behavior
• Difficulty with complex tasks

How is Agenesis of the Corpus Callosum Diagnosed?

The diagnosis of Agenesis of Corpus Callosum may include:

• A complete medical history and a thorough physical exam
• Brain scans are conducted to determine if the corpus callosum has been formed or not. These may include prenatal ultrasounds and MRI scans, and CT or MRI scans after development of the child

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Agenesis of the Corpus Callosum?

Agenesis of the Corpus Callosum is often associated with other cerebral anomalies, physical conditions, or syndromes. The common anomalies associated with ACC include:

• Hydrocephalus (abnormal accumulation of cerebrospinal fluid in the brain),
• Arnold-Chiari malformation (condition in which there is downward displacement of cerebellar tonsils), and
• Holoprosencephaly (failure of forebrain to divide into two hemispheres)

Aicardi syndrome, Shapiro syndrome, Menkes syndrome, and Mowat-Wilson syndrome have also been observed in many individuals with Agenesis of Corpus Callosum.

How is Agenesis of the Corpus Callosum Treated?

Currently, there are no treatment measures available for Agenesis of the Corpus Callosum (ACC). The treatment is aimed at managing the signs and symptoms and controlling seizures, if they occur.

• Children with Agenesis of Corpus Callosum can benefit from developmental therapy options, as well as educational support systems that are available for these individuals
• It is recommended that individuals with ACC consult with behavioral psychologist, early childhood special educators, geneticists, neurologists, occupational therapists, ophthalmologists, and speech-language pathologists so that they can develop as normally as possible

How can Agenesis of the Corpus Callosum be Prevented?

• It is difficult to prevent the occurrence of Agenesis of the Corpus Callosum, since there are a variety of potential causes for this abnormal brain condition
• While there is no assurance, taking special precautions during pregnancy to ensure that the prenatal environment is safe, may reduce the likelihood of Agenesis of Corpus Callosum development in the child

What is the Prognosis of Agenesis of the Corpus Callosum? (Outcomes/Resolutions)

• The symptoms vary greatly in individuals with Agenesis of Corpus Callosum and can range from mild to very severe
• With proper medical intervention and support, individuals with more severe conditions can learn to lead normal lives to the extent possible

Additional and Relevant Useful Information for Agenesis of the Corpus Callosum:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/