Definition

What is agenesis of the corpus callosum?

Agenesis of the corpus callosum (ACC) is one of several disorders of the corpus callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent. It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity. Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual. Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure.

How common is agenesis of the corpus callosum?

Agenesis of Corpus Callosum produces symptoms during the first two years of life in approximately ninety percent of those affected. It has been thought to be a very rare condition but the increased use of neuro-imaging techniques, such as MRI, is resulting in an increased rate of diagnosis. This condition may also be identified during pregnancy through an ultrasound. Currently, the highest estimate of incidence is 7 in 1000 individuals. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of agenesis of the corpus callosum?

The common symptoms of agenesis of the corpus callosum are:

  • Onset of epileptic seizures during the first weeks of life or within the first two years
  • Feeding problems
  • Delays in holding the head erect
  • Delays insitting, standing and walking
  • Impairment of mental and physical development
  • Accumulation of fluid in the skull
  • Non-progressive mental retardation
  • Impaired hand-eye coordination
  • Visual or auditory (hearing) memory impairment
  • Monotonous or repetitive speech
  • Deep-set eyes
  • Prominent forehead
  • Abnormally small head or sometimes an unusually large head
  • Tags of skin in front of the ears
  • One or more bent fingers
  • Delayed growth
  • Wide-set eyes
  • Small nose with upturned (anteverted) nostrils
  • Abnormally shaped ears
  • Excessive neck skin
  • Short hands
  • Diminished muscle tone (hypotonia)
  • Abnormalities of the larynx
  • Heart defects
  • Symptoms of pierre-robin syndrome

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If your child has any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes agenesis of the corpus callosum?

In most cases, the cause of ACC is unknown. However, agenesis of corpus callosum can be inherited as an autosomal recessive trait or an X-linked dominant trait. This disorder may also be due in part to an infection during pregnancy (intrauterine) leading to abnormal development of the fetal brain.

Risk factors

What increases my risk for agenesis of the corpus callosum?

There are many risk factors for agenesis of the corpus callosum, such as:

  • Genetics
  • Intrauterine infection

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is agenesis of the corpus callosum diagnosed?

Ultrasound and magnetic resonance imaging (MRI) are imaging techniques that aid in diagnosis of agenesis of corpus callosum.

How is agenesis of the corpus callosum treated?

There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur. Associated difficulties are much more manageable with early recognition and therapy, especially therapies focusing on left/right coordination. Early diagnosis and interventions are currently the best treatments to improve social and developmental outcomes.

Anti-seizure medications, special education, physical therapy, and related services may be of benefit depending upon the range and severity of symptoms. When hydrocephalus is present it may be treated with a surgical shunt to drain the fluid from the brain cavity, thereby lowering the increased pressure on the brain. Genetic counseling may also be of benefit to families with this disorder.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage agenesis of the corpus callosum?

The following lifestyles and home remedies might help you cope with agenesis of the corpus callosum:

  • Occupational therapy helps to help build self-care and mobility skills such as eating, getting dressed, and walking.
  • Special education is necessary for cognitive and learning problems

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 18, 2019 | Last Modified: February 18, 2019

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