Discussions By Condition: I cannot get a diagnosis.

What diagnosis sums up these symptoms? (Neurologist help !: ataxia, hypomyelination)

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Anonymous
  • January 15, 2010
  • 02:02 AM

A dear friend of mine in New Jersey has a 5 year old son who does not yet have an overall diagnosis although apparently he has a neurologist, family doctor and geneticist involved (some others, I can't remember what). The boy had an unremarkable birth following a 'normal' to term pregnancy. I don't remember if he reached early motor milestones (crawling, walking etc) but his symptoms have been present since I have known him (he was age 3) and now he has been 'diagnosed' with:

cerebellar hypoplasy
hypomyelination (don't know if this is the same as above, but they are on different reports)
apraxia of speech (he is non-verbal)
non-verbal intelligence that is within normal limits according to the WPPSI

He used to wear glasses but now his mother says the ophthalmologist says he doesn't need them. He has great difficulty with posture (often leans over, can't hold himself up, needs to support his head with his right arm) and balance (tries to reach out to hold on to a wall when walking, often falls at school). He also has difficulty controlling saliva and breathes heavily (you can hear his respirations - mom says he has been tested and things are okay). Hearing is reportedly normal. On one report (a scan of the white matter, I believe) it says there is a 'mild progression'.

My questions:

1) are cerebellar hypoplasy and hypomyelination the same thing?

2) Does 'mild progression' mean the myelin is deteriorating (as he has hypomyelination) or regenerating? Can myelin even regenerate?

3) Is it possible vision can improve like that?

**4) Is hypomyelination and/or cerebellar hypoplasy a diagnosis in itself, or are they just terms to describe the symptoms?

**5) If they are just terms to describe the symptoms, is there one particular disease/disorder that may account for all of the above observations?

Thank you so much in advance.

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