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behavior pattern--better spelling?

Nick Medford nick at hermit0.demon.co.uk
Fri Mar 19 09:34:47 EST 1999


In article <7csidc$gqq at dfw-ixnews6.ix.netcom.com>, F. Frank LeFever
<flefever at ix.netcom.com> writes
>
>How about "Lesch Nyhans"?
>
>[snip]

The disorder you're after is Lesch-Nyhan syndrome. It's a v.rare X-
linked disorder. The underlying metabolic abnormality is deficiency of
hypoxanthine guanine phosphoribosyl transferase, an enzyme involved in
purine breakdown. This deficiency leads to hyperuricaemia and childhood
gout, also microcephaly, mental retardation, choreoathetosis and
stereotypies, seizures, and as you say compulsive self -mutilation. I
vaguely remember seeing a photo of an 8 yr old boy with this condition
who had chewed off most of his fingers.

It doesn't seem likely that this would be the diagnosis in the case
described in the original posting, since none of the other features are
present as far as we are told. I don't know if any partial forms of the
disorder have ever been described. Even if they have, that would
represent a rare variant of an already v.rare condition, so still very
unlikely.

A non-organic behavioural problem seems much more likely. I suppose a
long shot would be an unusual seizure disorder.

Regards  
-- 
Nick Medford



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