Cerebellar Hypoplasia

What is cerebellar hypoplasia?

Cerebellar hypoplasia (pronounced “seh-ruh-beh-lur” “hai-puh-play-zhee-uh”) is when a fetus’s cerebellum doesn’t develop completely or is smaller than normal. The cerebellum is the part of your brain that coordinates movement and helps with speech. It’s located in the back of your brain, just above where your neck and skull meet.

This rare condition often causes developmental delays. Children may need support in learning to walk, talk or other functions.

Types of cerebellar hypoplasia

There are two types that vary based on the cause:

• Primary. It happens with a congenital (present at birth) condition.
• Secondary. It’s acquired. Certain factors make your child more likely to develop it.

Symptoms of cerebellar hypoplasia

Symptoms vary for each child. They depend on factors like the underlying cause or part of the cerebellum that didn’t develop as expected.

Common symptoms that affect infants include:

• Abnormal eye movements and difficulty with visual tracking
• Developmental delays (like not learning to walk or talk at the expected age)
• Difficulty with balance when walking
• Intellectual disability
• Seizures (less often)
• Weak muscle tone

Common symptoms in older children may include:

• Clumsiness
• Dizziness
• Headaches
• Hearing loss

Cerebellar hypoplasia causes

Many things may cause this rare condition. These include problems with the development of the cerebellum due to a pregnancy complication or a genetic condition caused by changes or mutations in your baby’s DNA.

Cerebellar hypoplasia can occur by itself, or it may occur as part of a syndrome such as:

• CHARGE syndrome
• Joubert syndrome
• Wilson disease
• Certain metabolic disorders
• Other conditions related to DNA changes

Risk factors of cerebellar hypoplasia

If you’re pregnant, your child may be more at risk of developing this condition if you:

• Smoke or use tobacco products
• Drink alcohol
• Take antiseizure medication
• Have a virus (Zika virus or cytomegalovirus)

These factors may affect how a fetus’s cerebellum develops. In addition, a baby with preterm birth or low birth weight may be more likely to have cerebellar hypoplasia.

How doctors diagnose cerebellar hypoplasia

A healthcare provider will review imaging tests to diagnose this condition. They’re looking for any size and shape abnormalities of your child’s cerebellum. They may notice signs on an ultrasound during pregnancy. A provider may order an MRI scan for babies or children who have symptoms.

Additional tests may help confirm the underlying cause, like genetic testing or testing for an infection or other exposure during pregnancy.

How is cerebellar hypoplasia treated?

Because symptoms vary from person to person, a healthcare provider will create a treatment plan to help your child manage their symptoms specifically. This may include:

• Educational support
• Occupational therapy (to help with skills such as reaching and grabbing or handwriting)
• Physical therapy (to help with skills like balance while walking)
• Speech therapy (to help with skills like producing clear speech)

When should my child see their healthcare provider?

Contact your child’s pediatrician if you notice they’re not reaching developmental milestones as expected. This could include not walking or talking at the appropriate age.

What can I expect if my child has cerebellar hypoplasia?

Many children with this condition will need some support in their motor skills (such as using utensils or balancing while walking) or intellectual skills (to help with learning). Some children with cerebellar hypoplasia may need lifelong supportive care. How much care depends on the severity. For example, whether their cerebellum is mildly or severely underdeveloped and the underlying cause, and whether or not there are other related symptoms.

Many different treatment options are available based on your child’s needs. Their care team can help you choose the best treatment for your child’s situation.

Cerebellar hypoplasia life expectancy

The life expectancy varies depending on the cause and what symptoms your child has. For example, some children have a normal life expectancy, while others may not survive childhood. Your child’s case may or may not match statistics. It’s best to talk to your child’s provider to learn more about what you can expect.