Body-Stalk Anomaly

Callosal anomalies are birth defects in which the corpus callosum, the structure in the brain that connects the left and right sides (hemispheres), is missing, agenesis of the corpus callosum or partially missing, dysgenesis of the corpus callosum. 

The corpus callosum is made up of millions of nerve fibers that enable the two sides of the brain to communicate. When this area of the brain doesn’t form properly, it can result in cognitive impairment, developmental delays and other health issues. The condition can range from mild to severe.

Agenesis of the corpus callosum may be an isolated defect or it can occur in combination with other abnormalities of the brain, heart or other organs.

Treatment is aimed at diagnosing the reason for the anomaly If possible, managing the child’s symptoms and maximizing their ability to function.

How will agenesis of the corpus callous affect my baby?

The severity of the agenesis of the corpus callous varies widely depending on the presence of any associated brain conditions and if it is related to a genetic condition that affects development. Some children with callosal anomalies have normal intellect and only mild learning disabilities. Others may have severe intellectual disabilities, seizures, cerebral palsy, development delays and social challenges.

Symptoms vary based on each child’s condition, but may include:

• Seizures
• Spasticity (muscle tightness or stiffness)
• Feeding and swallowing difficulties
• Delays in development of motor skills, such as holding the head up, sitting, standing and walking
• Delays in talking and reading
• Intellectual disabilities
• Vision and hearing problems
• Lack of coordination
• Poor muscle tone

In some cases, the condition may become more evident during the teenage years, when the teen falls behind in mental processing and social skills that their peers are developing. During adolescence, symptoms may include:

• Lack of abstract reasoning and problem-solving skills
• Difficulty with social interaction/social immaturity
• Inattentiveness/attention deficit disorder
• Obsessive behaviors

Cause

Agenesis of the corpus callosum is a congenital defect, meaning it is present at birth.

The condition occurs when there is a disruption in the normal development of the brain. The corpus callosum usually forms near the end of the first trimester.

While the cause is often not identified, potential causes include:

• Genetics such as chromosome abnormalities or mutations in a single gene
• Maternal viral infection passed to the fetus
• Exposure to certain medications, drugs or alcohol during pregnancy
• Brain cysts that prevent the fetal brain from developing normally

Diagnosis

Agenesis of the corpus callosum may be diagnosed during pregnancy through a routine prenatal ultrasound.

In some cases, the condition isn’t diagnosed until after birth, typically within the first two years of life.

Specialized Evaluation and Care

If agenesis of the corpus callosum is diagnosed or suspected during pregnancy, you may be referred to a fetal center for further evaluation and proper treatment planning.

At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible for a comprehensive assessment by a team of specialists experienced in diagnosing and treating these rare birth defects, including maternal-fetal medicine (MFM) physicians, fetal imaging experts, pediatric neurosurgeons and neurologists, genetic counselors and neonatologists.

Additional testing to confirm the diagnosis and look for other abnormalities may include:

• High-resolution anatomy ultrasound
• Ultra-fast MRI for a more detailed view of the fetal brain
• Amniocentesis and genetic testing to identify any chromosomal anomalies and look for signs of infection

Following this thorough evaluation, our specialists will meet with you about your results, answer any questions you have, and discuss treatment recommendations.

A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the special needs your baby may have at birth, for the earliest possible treatment. Early intervention can help maximize the child’s abilities and skills while providing new parents the support they need.

Mother and baby will be closely monitored throughout pregnancy with regular ultrasounds to assess fetal growth and watch for signs of complications.

Delivery

Delivery recommendations will be based on the needs of your baby and pregnancy, including the presence of any associated defects or complications.

In severe or complex cases, delivery at a center with specialized expertise and resources for the treatment of fetal brain malformations may be recommended, including an advanced neonatal intensive care unit (NICU).  

Treatment After Birth

Treatment for agenesis of the corpus callosum is focused on managing the child’s symptoms and maximizing their ability to function.

Treatment strategies may include:

• Medications to control seizures
• Physical therapy to improve coordination and strength
• Speech therapy
• Occupational therapy to improve daily living skills (getting dressed, eating, etc.) and mobility
• Special education for learning disabilities

In cases involving hydrocephalus (accumulation of fluid in the brain), surgery may be performed to place a shunt (hollow tube) in the baby’s brain to drain the excess fluid, reducing the pressure on the brain.

Postnatal Care Team

A unique and distinct advantage for mothers delivering at Texas Children’s Pavilion for Women is our location inside one of the top children’s hospitals in the nation, for seamless access to the specialists and services your child may need at birth.

Our Fetal Center team works closely with Texas Children’s Neurology and Developmental Neuroscience Center, a multidisciplinary team of specialists experienced in treating agenesis of the corpus callosum. Texas Children’s Hospital is ranked #2 in the nation for pediatric neurology and neurosurgery care by 2020 U.S. News & World Report.

Depending on your baby’s needs, his or her postnatal care team may include:

• Neonatologist
• Neurologist
• Neurosurgeon
• Physical and Occupational Therapist
• Physical Medicine and Rehabilitation
• Developmental Pediatrics
• Speech Therapist
• Otolaryngology
• Ophthalmologist

Why Texas Children’s Fetal Center?

• A single location for expert maternal, fetal and pediatric care. At Texas Children’s Hospital, you and your baby receive the specialized care required for the diagnosis and treatment of agenesis of the corpus callosum all in one location, for highly coordinated care and treatment planning.
• A skilled, experienced team with proven outcomes. We have a dedicated team of maternal-fetal medicine specialists, fetal imaging experts, pediatric neurologists and neurosurgeons, genetic counselors, neonatologists and others who work in concert to care for you and your baby every step of the way, using proven protocols we’ve developed over the years. With their combined expertise and unified approach, this team offers the best possible care for babies with fetal brain malformations.
• We care for your child’s needs at every stage of life. Our comprehensive approach starts with your first prenatal visit and continues through delivery, postnatal care, and throughout childhood, thanks to one of the nation’s leading teams of fetal and pediatric specialists for the care and treatment of rare birth defects.

Videos

• Texas Children's Fetal Center: Our care began before he/she was born