Pediatric Agenesis of the Corpus Callosum

What Is Agenesis of the Corpus Callosum?

The corpus callosum is a part of the brain. Its nerve fibers connect the two sides (cerebral hemispheres) of the brain. Agenesis of the corpus callosum is a birth defect that happens when this structure does not develop properly.

There is a broad range of outcomes for babies born with agenesis of the corpus callosum, ranging from essentially normal function in the mildest cases to a range of potential health and developmental problems as severity increases.

What Causes Agenesis of the Corpus Callosum?

In many cases, we cannot identify the cause of agenesis of the corpus callosum. Known causes include:

  • Chromosomal defects that affect fetal brain development
  • Certain viral infections in the mother that pass to the developing baby
  • Exposure of the unborn baby to certain toxins or medications
  • Abnormal brain development caused by cysts

Symptoms of Agenesis of the Corpus Callosum

If there are no other brain development abnormalities, infants may have few, if any, significant difficulties in later life. Newborns with agenesis of the corpus callosum may not show symptoms right away, especially if they have no other associated conditions. Common symptoms that may become more apparent during infancy and childhood include:

  • Seizures
  • Cognitive impairment
  • Poor feeding and difficulty swallowing
  • Developmental delays in motor and language skills such as sitting up, walking, and talking
  • Vision and hearing impairment
  • Poor muscle tone and coordination
  • Insomnia or other sleep problems
  • Psychosocial difficulties including attention deficit disorder (ADD), obsessive behaviors, and social immaturity
  • Cognitive difficulties including learning disabilities and problems with abstract thinking and problem solving

How Is Agenesis of the Corpus Callosum Diagnosed?

Your physician may suspect agenesis of the corpus callosum based on routine prenatal ultrasound exams performed during pregnancy. Your doctor may refer you to our Fetal Medicine Institute for further testing to evaluate your baby’s condition. Tests may include:

  • High-resolution (level II) ultrasound to confirm the diagnosis
  • Fetal MRI to help confirm the diagnosis and identify whether associated brain problems are present. This advanced, high-resolution imaging test gives the best information about the underlying cause and the best picture of the rest of the baby’s brain.
  • MRI after birth to provide further information of your baby

Because agenesis of the corpus callosum may be associated with chromosomal or genetic abnormalities, we may recommend genetic testing by amniocentesis during pregnancy or by blood tests from the baby after birth.

Read more about the high-risk prenatal care services at the Fetal Medicine Institute of Children’s National.

Treatments for Agenesis of the Corpus Callosum

Currently, there are no treatments to restore the corpus callosum to normal. The main course of treatment for agenesis of the corpus callosum is to manage any complications that may arise. Treatment options may include:

  • Medications to control seizures
  • Speech therapy to help with speech and language development
  • Physical therapy to improve muscle strength and coordination
  • Occupational therapy to help build self-care and mobility skills such as eating, getting dressed, and walking
  • Special education as necessary for cognitive and learning problems

The neurologists and neurosurgeons in the Fetal Brain Program at our Fetal Medicine Institute have extensive experience in the management of agenesis of the corpus callosum. We develop plans that ensure continuity of care from the early stages of pregnancy, after birth, and across childhood.

Learn more about our Fetal Medicine Institute.

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