Cerebellar hypoplasia is the underdevelopment of the cerebellum. Symptoms can include seizures, developmental delays, and difficulties with movement.
Cerebellar hypoplasia is the underdevelopment of a part of your brain called the cerebellum. It’s a structure at the back of your brain that has many functions, such as:
- coordinating voluntary movements
- maintaining balance and posture
- allowing you to learn complex movement patterns, such as throwing a ball
- coordinating movements related to language
Cerebellar hypoplasia can range from mild underdevelopment to a complete lack of a cerebellum. It can occur at birth or develop early in childhood.
In this article, we cover everything you need to know about cerebellar hypoplasia, including symptoms, treatment options, and risk factors.
Symptoms of cerebellar hypoplasia vary between people, depending on the severity of the condition and the part of the cerebellum affected. It doesn’t always cause symptoms.
- developmental delays
- speech delays
- intellectual disability
- involuntary side-to-side eye movements
- difficulties with balance and walking
- limited muscle tone
Older children might have:
Cerebellar hypoplasia can develop due to:
- genetic differences that cause dificulties with cerebellum development in the womb
- rare inherited neurodegenerative or metabolic conditions, such as:
Genetics of cerebellar hypoplasia
Researchers are still examining which genes are linked to the development of cerebellar hypoplasia. In a
Other mutations linked to cerebellar hypoplasia include the following:
- A mutation in the
CASKgenehas been linked to underdevelopment of the pons and cerebellum and microcephaly, a smaller than typical head. BICD2gene mutations have been linked to cerebellar hypoplasia and lissencephaly, which is the loss of folds in the outer part of your brain. PRDM12mutations are linked to fatal brainstem dysfunction with cerebral hypoplasia.
Some gene mutations linked to hypoplasia are passed through families.
Not much is known about nongenetic causes of cerebellar hypoplasia, but it’s been linked to the following
- alcohol use
- cocaine use
- valproic acid use
- mifepristone use or failed termination of pregnancy
- congenital infections like cytomegalovirus or Zika virus infection
Pets and animals
- jerky movements
- trouble walking
Underdevelopment of the cerebellum can range from
- serious movement difficulties
- learning and development delays
- trouble or inability to walk
- difficulties communicating
Cerebellar hypoplasia can occur by itself or with other brain malformations. For example, it’s a component of Dandy-Walker malformation, which is characterized by:
- enlargement of the fourth ventricle, a cavity in your brain
- underdevelopment of a part of the cerebellum called the cerebellar vermis
- enlargement of the base of the skull
Dandy-Walker malformation is linked to a risk of developing
It’s important to contact a doctor if your child has developmental delays, seizures, and any other symptoms that could indicate a neurological condition.
Electroencephalography can measure your child’s brain activity if they develop seizures to help identify the underlying cause.
A doctor may order a genetic blood test to look for genes linked to cerebellar hypoplasia or other genetic conditions.
The development of cerebellar hypoplasia isn’t fully understood, and it isn’t curable.
Treatment for cerebellar hypoplasia revolves around treating symptoms and supporting developmental delays. Treatment options include:
Cerebellar hypoplasia usually isn’t preventable because it’s often linked to gene mutations passed through families.
Taking steps to avoid tobacco, alcohol, and illegal drugs during pregnancy that can cause developmental issues for a fetus may help lower the chances of your baby being born with cerebellar hypoplasia.
The life expectancy for somebody with cerebellar hypoplasia depends on the severity of their condition. Some children might live typical lives with minimal to no apparent symptoms. Other children may not live through infancy or may have permanent disability.
Children with Dandy-Walker malformation are at a high risk of developing hydrocephalus, in which fluid builds up in the ventricles in the brain due to a blockage. About
But most children with treated Dandy-Walker malformation live into adulthood, according to the Child Neurology Foundation. Treatment of hydrocephalus in people with Dandy-Walker malformation appears to improve the outcomes.
Symptoms of cerebellar hypoplasia can vary widely between individuals, depending on the severity of the condition.
There’s no cure for cerebellar hypoplasia, but a doctor can recommend how to best manage complications, such as academic difficulties. It’s important to see a doctor for your child any time you suspect your child may have a neurological condition.