need help for child with rare disorder

My son just turned 3 years old.  He was diagnosed with Cerebellar Hypolasia of the vermis, both hemispheres by MRI in Aug 08'.  I am looking for any info on this whatsoever.  The pediatric neurologist had very limited info and nothing to offer as far as a prognosis.  I need any info, names of Dr's who may specialize in this area, etc.  Declan, my son, has ataxia which is difficulty with balance, coordination and knowing where his body is in space.  He does not speak but does some sign language.  He is delayed in every developmental area to some degree.  He does show great understanding of language and is intelligent.  Thank you for your help.  Sincerely, Heather

[selmaS]

Hi Hedda...below is a link to a site that is trustworthy.I did not copy and paste all the info...but I hope this helps u understand what is going on with ur little guy.



http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm

What is Cerebellar Hypoplasia?

Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.  Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia.   In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, mental retardation, and involuntary side to side movements of the eyes.  In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.


Is there any treatment?

There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms.  Generally, treatment is symptomatic and supportive.


What is the prognosis?

The prognosis is dependent upon the underlying disorder.  Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis.  Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to cerebellar hypoplasia and its associated disorders in its laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.  Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders that feature cerebellar hypoplasia.

I hope u continue to post updates on ur son's progress!!
Good luck
Godspeed
"selma"

[Hedda46]

Thank you very much, Selma.  I appreciate that link and will continue searching.

[selmaS]

U r welcome!

[Dorotap]

My son has partial vermis and has been diagnosed with Joubert Syndrome. He has no other health  issues. He is developmentally delayed but learning everything at a slower pace. If you want to write to me please don't hesitate

[Mozzavich]

Hi Heather

Today we had our three year old daughter confirmed with a atrophic vermis. She has restricted balance when standing still or sitting and her speech is 6 months to a year delayed. She can run, climb etc and can say three word sentances. Our Neurologist at this time can offer no real outlook other than stimulation of the brain and motor skill via "sensoral integration" therapy and speech therapy will help her. She is a bright little girl and certainly the speech therapy has shown some positive results given we only started a month ago, however we still have no real view on what life will be like for her in the future.

It would be great to have contact with you to see if we can share any knowledge on information you may have as we are like you starting on this road.

Regards

Simon Ford - ***@****