Re: encephalopathy due to delayed brain mylination
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Posted by CCF Neurology MD on July 31, 1997 at 10:26:21:
In Reply to: encephalopathy due to delayed brain mylination posted by V. Pohlman on July 09, 1997 at 22:44:48:
: My 6 year old was diagnosed 4 years ago with encephalopathy due to delayed brain mylination. She has made some progress in the past years but is still about 50% delayed, particularly in the areas of speech and language. We have no answers about why a normal infant suddenly became so severely neurologically damaged, and we have no clear answers about the future. I am searching for any answers and hopefully some new treatments.
=Dear V. Pohlman, Myelin disorders are classsified based on whether or not a primary biochemical abnormality of myelin exists. Diseases in which normal
myelin is disrupted are considered demylinating, while diseases in which an intrinsic abnormality of myelin exists are considered dysmyelinating. By your
description , I would assume your child is afflicted with a dysmyelinating disorder. In dysmyelinating disorders, there is a inherited biochemical defect
in the metabolism of myelin proteoloipds. These are classified using a combination of biochemical and genetic analysis. However, while the ability to identify
such disorders is acclerating at a fantastic rate, the ability to treat is sadly lagging far behind simply because our understanding of many of these disorders
is so new. If your child was diagnosed approximately four years ago, it may be beneficial to have him re-evaluated by a pediatric neurologist who specializes
in metabolic disorders to see if there are any advances in treatment or at very least in the diagnosis of the disorder that your child has. Even information
concerning the diagnosis may be beneficial in regards to if you plan to have more children (e.g. how is the disorder inherited) and the long term prognosis with
children who have similar disorder(s). If you wish such a re-evaluation, I would recommend Dr. B. Cohen in the Dept. of Pediatric Neurology at CCF (216-444-9182)if
live in the Ohio region. If you live outside that region, Dr. Cohen may be able to recommend someone for you. "This information is provided for general medical
education purposes only. Please consult your physician for diagnostic and treatment options of your specific medical condition."
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