file.newsgroup.med.59040 Maven / Gradle / Ivy
From: [email protected] (Gordon Banks)
Subject: Re: Cause of mental retardation?
In article <[email protected]> [email protected] writes:
>
>Chromosome studies have shown no abnormalities. Enzyme studies and
>urine analyses have not turned up anything out of the ordinary.
>MRI images of the brain show scar tissue in the white matter.
>Subsequent MRI analysis has shown that the deterioration of the
>white matter is progressive.
>
>Because neither family has a history of anything like this, and
>because two of our four children are afflicted with the disorder,
>we believe that it is an autosomal recessive metabolic disorder of
>some kind. Naturally, we would like to know exactly what the
>disease is so that we may gain some insight into how we can expect
>the disorder to progress in the future. We would also like to be
>able to provide our normal children with some information about
>what they can expect in their own children.
>
It could be one of the leukodystrophies (not adrenal, only
boys get that). Surely you've been to a university pediatric
neurology department. If not that is the next step. Biopsies
might help, especially if peripheral nerves are also affected.
There are so many of these diseases that would fit the symptoms
you gave that more can't be said at this time.
I agree with your surmise that it is an autosomal recessive.
If so, your normal children won't have to worry too much unless
they marry near relatives. Most recessive genes are rare
except in inbred communities (e.g. Lithuanian Jews).
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Gordon Banks N3JXP | "Skepticism is the chastity of the intellect, and
[email protected] | it is shameful to surrender it too soon."
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