The accepted wisdom is that for there too be any chance of success prenatal
diagnosis and treatmrent started within hours or at the very least days of
birth is essential. We had a patient very similar to yours a few years
ago. The diagnosis was self evident to any clinician who was looking for
it, but many months were wasted on excluding all other causes. Once the
diagnosis was confirmed the paediatrician in charge of the case felt bound
to mention copper histidinate to the parents, who of course grabbed the
chance, but so far as I am aware there was no clinical improvement.
There are only a couple of clinicians who have succesfully reported such
treatment. I no longer have their details, but if I find them I will
forward them to the list.
Barry Sampson
At 13:07 15/05/00 +0100, you wrote:
>
>------- Forwarded message follows -------
>Date sent: Thu, 11 May 2000 20:27:02 -0700
>Subject: Menkes disease treatment
>From: "Wilcox, Bill, M.D, Ph.D." <[log in to unmask]>
>To: [log in to unmask]
>
>Has anyone seen a signficant response to copper-histidine therapy in a child
>with Menkes after the onset of seizures? The impression I get from the
>literature and some conversations are no.
>
>I have seen a 4 month old with developmental delay who developed seizures 2
>weeks ago. The MRI shows some atrophy and ventriculomegaly. He has the
>typical facies and hair and very low copper and ceruloplasm.
>
>The parents are not inclined to start copper therapy without a good chance
>of significant benefit. They are also concerned about his irritability and
>difficulty in falling asleep. If anyone has any management suggestions, I
>would appreciate it.
>
>Bill Wilcox
>
>
>William R. Wilcox, M.D., Ph.D.
>Assistant Professor of Pediatrics
>UCLA School of Medicine
>
>Division of Medical Genetics
>Department of Pediatrics
>Cedars-Sinai Medical Center
>8700 Beverly Blvd., SSB-3
>Los Angeles, CA 90048
>(310) 423-6673
>FAX (310) 423-0237
>email: [log in to unmask]
>
>------- End of forwarded message -------
>
>
Barry Sampson
Trace Element Laboratory
Clinical Chemistry
Charing Cross Hospital
London W6 8RF
UK
Phone +44-020-8-846-7080
Fax +44-020-8-846-7007
[log in to unmask]
Trace Element Laboratory now on the Web at:
<http://home.clara.net/sampson1/html/laboratory.htm>
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