Cerebellar Hypoplasia

What is cerebrellar hypoplasia?

Cerebrellar hypoplasia is a neurological defect that occurs when the cerebellum is under-developed or smaller in size than usual. It is present in many babies who have congenital conditions such as metabolic and neurodegenerative disorders. Some examples of disorders that may feature cerebrellar hypoplasia include:

• William’s syndrome
• Ataxia telangiectasia
• Walker-Warburg syndrome (this is a form of muscular dystrophy)

The cerebellum is the part of the brain that plays a major role in producing and coordinating movement. It is located at the back of the brain.

What are the symptoms of cerebrellar hypoplasia?

In babies and infants, the symptoms of cerebrellar hypoplasia may include:

• lack of muscle tone and floppiness
• lack of balance
• delayed motor development (children may learn to crawl and walk later than other children)
• seizures
• learning difficulties
• involuntary movement of the eyes (the eyes tend to move from side to side very quickly)

In older children, symptoms may include:

• headaches
• lack of balance and clumsiness (this may lead to frequent slips and trips)
• poor hearing

What treatment options are available for children with cerebrellar hypoplasia?

There is no cure as such for cerebrellar hypoplasia and treatments tend to be aimed at reducing symptoms and improving quality of life. The exact types of treatment used will often depend on the nature and severity of underlying congenital conditions and may include medication to prevent seizures. Other types of treatment include therapies to help with coordination, mobility, balance and learning.

What is the outlook for people with cerebrellar hypoplasia?

The outlook is heavily dependent on the underlying cause. In some cases, the conditions are progressive and this means that the prognosis will generally be poor, as the condition becomes more advanced and limiting with time. In cases affecting foetal brain development, treatment may improve the prognosis dramatically.

Research into the causes, symptoms and treatments of cerebrellar hypoplasia is ongoing and researchers hope to find more effective treatments and ultimately, a cure for some of the most common underlying causes.