Re: C.R.E.S.T. Syndrome With Elevated MSAFP In Pregnant Patient
From: art fougner, md (evsono@pipeline.com)
Tue Apr 4 17:43:13 2000
there is the distinct possibility that the next time you look, there
won't be an FH.
Art
At Tue, 4 Apr 2000, DGH wrote:
>
>I have an interesting patient, G1P0, mid 2o's with an elevated maternal
>serum alphafetoprotein of 23 multiples of the median. Repeat by the
>same lab is similar. A sample sent to a reference laboratory is
>pending. She has C.R.E.S.T. (calcinosis, Raynauds, esophageal
>dysfunction, scleroderma, and telangectasias). The HCG and estriol are
>in the normal range. She is at 17 weeks with a normal appearing fetus,
>no evidence of open neural tube defect or abdominal wall defect.
>
>There is amniotic fluid present, enough for an amniocentesis, but the it
>is markedly diminished.
>
>She has never had an alphafetoprotein done before (no reason to do so).
>She has no evidence of liver or other GI disease and LFT's are all
>normal.
>
>Genetics and rheumatology have seen her, but have no added suggestions.
>
>I have done an amniocentesis for chromosomes, amniotic alphafetoprotein,
>and acetylcholinesterase. I could obtain only 20 cc. of fluid. It was
>a medium to darkish brown in color.
>
>I have done a literature search. There are no articles in the
>literature that match both to C.R.E.S.T. syndrome and pregnancy. There
>is one article where there is an elevated alphafetoprotein, but the
>patient had a lung tumor that was thought to be of yolk sac origin.
>Presumably the patient in question was not pregnant.
>
>Does anybody have previous experience with a similar problem? Any
>suggestions on any additional laboratory work to run on the amniotic
>fluid? On the patient? I have considered getting a GI consultation.
>
>I am leaving my name off this post to try to help preserve the patient's
>privacy.
>
>--
>DGH.
>
--
art fougner, md
A series of 1000 cases begins with but a single anecdote.
