Leukodystrophy?

[Linda888]

Hello, I hope you can help!  I've been trying to learn about delayed myelination, dysmyelination, and hypomyelination.  My son is 2 and a half, with microcephaly, mental retardation, cortical vision impairment, motor skills of 4 month old. Cannot walk, crawl, sit up on own, or roll over. Nonverbal, cannot feed himself.  Athetoid movements

My son's MRI reports at age 5 months and age 1 year showed "delayed myelination".  Then his neurologist said he had "dysmyelination".  Later, at a different appointment he called it "hypomyelination".  

I am confused as to all these terms that the neurologist seems to be using interchangeably.  Then when I asked him if this meant that he has a type of leukodystrophy, he said that he doesn't have a leukodystrophy, because that would mean regression/DEmyelination (and my son is not regressing).  When I read about leukodystrophies, most were about DEmyelinating, BUT some said that they could be about DYSmyelination and not progressive.

First question: Could you please tell me the difference between delayed myelination, dysmyelination, and hypomyelination?

Second question:  are there some leukodystrophies that involve delayed, dys-, or hypo- as opposed to DEmyelination?

Third question:  are there any leukodystrophies that do not involve regression, or do they always have regression as a feature?  (My son is not regressing)

Last question:  all leukodystrophies mean a myelin problem.  Is the opposite also true, that all myelin problems mean leukodystrophy?

THANK YOU very, very much for taking the time to answer these questions.  

[Ktuff]

Hi Linda my son has the same exact problem since 3 months of age seizures ,  can't sit crawl or walk ., MRI showed d/dysmylenation , microcephaly, blue scelera, he is now 15 months old with some white matter changes after 3 MRI but no really significant changes  , they Also said maybe a leukodystropy but still no diagnosis tested negative for adl and krabbe . Maybe there's still hope but your son's  symptoms are alit like my son plz keep each other updated

[Linda888]

Hi Caliber thanks for your post.  My son is not doing well.  His main problem right now (other than the fact that he can't walk, talk, crawl, sit up, or see well!) is that he has acid reflux.  It causes him a lot of pain and discomfort some days.  However, it has been getting better as we eliminate foods from his diet trying to find the offenders.  He takes prevacid for it also.  When he doesn't have the reflux, he is pretty happy, thankfully.  He laughs and plays with toys that we put in front of him - his favorite is a small piano keyboard, he plays it very intently with both hands like a "real" pianist.  He is very much loved by us and the extended family, and he seems to knows it.

I thank you for your post.  I meant to post my question on the "ask the expert/doctor" neurology page, but accidentally posted it here.  I keep trying to post it over there, but it always says that the daily question limit for that page has been reached.

You've helped me to clear up some of my confusion about this.  I just can't figure out why his neurologist is using the terms interchangeably. Part of it  I think is that the doctors are done looking for a name for his disorder because, in their words, there is no treatment for him regardless. But I would like to know so that we have a better understanding of prognosis - and if there is treatment in the future.

Take care,
Linda

[Caliber2005]

Hi linda,
How is your son feeling now?
I feel sorry for him.
Well, Delayed myelination means delay in acquisition, development, or formation of myelin sheath around a nerve fiber.
Dysmyelination means abnormal pattern of myelination and hypomyelination means defective formation of myelin in the spinal cord and brain, the basis for number of demylinating disease.
Leukodystrophy per se means degeneration of the white matter of the brain characterized by demyelination and glial reaction.
I don’t remember any leukodystrophies causing dys- ,or hypo as opposed demyelination.
Your third question is answered in definition of Leukodystrophy.
All myelin problems do not mean Leukodystrophy.
But, I would like to do some research on this and let you know further.
Hope some of this helps you.
Bye.