[PAGID] PAGID Digest, Vol 52, Issue 2

[Jennifer Puck]

A similar presentation of patient I have seen was ultimately diagnosed as a
rare "hollow visceral myopathy". GI biopsies were diagnostic, and the
condition also affected bladder, ureters.
Jennifer M. Puck, M.D.
Professor of Pediatrics
University of California, San Francisco, Box 0519
513 Parnassus Avenue, HSE 301A
San Francisco, CA  94143-0519

Email: puckj at peds.ucsf.edu
Phone: 415 476-3181
FAX: 415 502-5127 





On 8/12/09 2:33 AM, "pagid-request at list.clinimmsoc.org"
<pagid-request at list.clinimmsoc.org> wrote:


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> Today's Topics:

> 

>    1. Re: Autoinmmune enteropathy? (Sabiha Anis)

>    2. Re: Autoinmmune enteropathy? (Kate Sullivan)

>    3. Re: Autoinmmune enteropathy? (Nacho Gonzalez)

>    4. Re: Autoinmmune enteropathy? (YaeJean Kim)

> 

> 

> ----------------------------------------------------------------------

> 

> Message: 1

> Date: Mon, 10 Aug 2009 12:00:30 +0600

> From: Sabiha Anis <sabiha_anis at hotmail.com>

> Subject: Re: [PAGID] Autoinmmune enteropathy?

> To: <pagid at list.clinimmsoc.org>

> Message-ID: <BAY124-W1239F247492B168CB36EAF95060 at phx.gbl>

> Content-Type: text/plain; charset="iso-8859-1"

> 

> 

> What are the results of stool D/R.  Have you ruled out worm infestations?

> 

>  

> 

> Regards

> 

> Sabiha anis

>  

> 

> 

> Date: Fri, 7 Aug 2009 14:00:55 +0200

> From: nachgonzalez at gmail.com

> To: pagid at list.clinimmsoc.org

> Subject: [PAGID] Autoinmmune enteropathy?

> 

> 

> 7 year old female (RM)  with severe chronic diarrea with neonatal onset.

> Cuacasian. She has persistent malabsortion. She required parenteral nutrition

> when she was eighteen month old (for severe malnutrition). Intestinal biopsy

> (2002): moderate partial vellous atrophy.

>  

> Her sister (AM) suffers from refractory celiac disease (CD) with persistent

> antigliadin and antitransglutaminase positive despite strictly gluten free

> diet. 

>  

> The patient (RM) presents negative celiac serology. HLA is not compatible with

> celiac disease.  Intraepitelial lymphocytes are not compatible with CD (in

> 2002 and now). Antienterocyte antibodies are also negative (in 2002 and now).

> CD25+ and FOXP3+ are in normal  range (this month). She has persistent IgE

> elevation (around 1000 IU/mL). Anti TPO levels were slightly elevated once

> (Dec?08) but now are in normal range. Anti PCA (parietal cell antibodies are

> slightly positive: 1/80 ) ANA + 1/40 (normal) .  We have ruled out food

> allergies.  IgG,A,M normal. Lymphocyte subpopulations: normal.

> She is now admitted for severe diarrhea and malnutrition.

>  

> We are not sure about starting steroid therapy. We'd really appreciate helpful

> suggestions about diagnosis and treatment.

> _________________________________________________________________

> Share your memories online with anyone you want.

> http://www.microsoft.com/middleeast/windows/windowslive/products/photos-share.

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> ------------------------------

> 

> Message: 2

> Date: Mon, 10 Aug 2009 05:40:58 -0400

> From: Kate Sullivan <sullivak at mail.med.upenn.edu>

> Subject: Re: [PAGID] Autoinmmune enteropathy?

> To: pagid at list.clinimmsoc.org

> Message-ID: <DFA430E4-1118-4353-BEA9-207441CA82C8 at mail.med.upenn.edu>

> Content-Type: text/plain; charset="iso-8859-1"; Format="flowed";

> DelSp="yes"

> 

> This sounds like IPEX-like disease.  IPEX is due to mutations in

> FOXP3, which is X-linked, but about half the kids with the phenotype

> have no mutation and are said to have an IPEX-like process.  Steroids

> generally are not helpful, but certainly worth a try.  I usually start

> with rapamycin and then if there is no effect after a month, move up

> to FK506.  This is a transplantable disease although success was poor

> until recently.  There is no specific diagnostic test for the IPEX-

> like patients.  If a biopsy shows lots of villous atrophy in the

> absence of gluten exposure and the there are lots of infiltrating T

> cells in the lamina propria- barring other immune deficiency, I

> usually call it a presumptive diagnosis and start rapamycin.  I try to

> wean them off down the road and if I can't then I call it IPEX-like

> disease.  The effect of rapamycin is variable, but generally takes a

> couple of weeks to a month.

> 

> Kate

> 

> 

> On Aug 10, 2009, at 2:00 AM, Sabiha Anis wrote:

> 

>> What are the results of stool D/R.  Have you ruled out worm

>> infestations?

>> 

>> Regards

>> Sabiha anis

>> 

>> Date: Fri, 7 Aug 2009 14:00:55 +0200

>> From: nachgonzalez at gmail.com

>> To: pagid at list.clinimmsoc.org

>> Subject: [PAGID] Autoinmmune enteropathy?

>> 

>> 7 year old female (RM)  with severe chronic diarrea with neonatal

>> onset. Cuacasian. She has persistent malabsortion. She required

>> parenteral nutrition when she was eighteen month old (for severe

>> malnutrition). Intestinal biopsy (2002): moderate partial vellous

>> atrophy.

>> 

>> Her sister (AM) suffers from refractory celiac disease (CD) with

>> persistent antigliadin and antitransglutaminase positive despite

>> strictly gluten free diet.

>> 

>> The patient (RM) presents negative celiac serology. HLA is not

>> compatible with celiac disease.  Intraepitelial lymphocytes are not

>> compatible with CD (in 2002 and now). Antienterocyte antibodies are

>> also negative (in 2002 and now).  CD25+ and FOXP3+ are in normal

>> range (this month). She has persistent IgE elevation (around 1000 IU/

>> mL). Anti TPO levels were slightly elevated once (Dec?08) but now

>> are in normal range. Anti PCA (parietal cell antibodies are slightly

>> positive: 1/80 ) ANA + 1/40 (normal) .  We have ruled out food

>> allergies.  IgG,A,M normal. Lymphocyte subpopulations: normal.

>> She is now admitted for severe diarrhea and malnutrition.

>> 

>> We are not sure about starting steroid therapy. We'd really

>> appreciate helpful suggestions about diagnosis and treatment.

>> 

>> Share your memories online with anyone you want anyone you want.

> 

> Kathleen Sullivan MD PhD

> Professor of Pediatrics

> Chief, Division of Allergy Immunology

> The Children's Hospital of Philadelphia

> (p) 215-590-1697

> (f) 267-426-0363

> 

> 

> 

> 

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> ------------------------------

> 

> Message: 3

> Date: Mon, 10 Aug 2009 15:52:55 +0200

> From: Nacho Gonzalez <nachgonzalez at gmail.com>

> Subject: Re: [PAGID] Autoinmmune enteropathy?

> To: pagid at list.clinimmsoc.org

> Message-ID:

> <6f6a491d0908100652q13af939fg7a55d77bd4a2a4f1 at mail.gmail.com>

> Content-Type: text/plain; charset="iso-8859-1"

> 

> normal stool D/R. worm infestations ruled out

> 

> Nacho Gonzalez Granado

> 

> 

> 2009/8/10, Sabiha Anis <sabiha_anis at hotmail.com>:

>> 

>> What are the results of stool D/R.  Have you ruled out worm infestations?

>> 

>> Regards

>> Sabiha anis

>> 

>> ------------------------------

>> Date: Fri, 7 Aug 2009 14:00:55 +0200

>> From: nachgonzalez at gmail.com

>> To: pagid at list.clinimmsoc.org

>> Subject: [PAGID] Autoinmmune enteropathy?

>> 

>>  7 year old female (RM)  with severe chronic diarrea with neonatal onset.

>> Cuacasian. She has persistent malabsortion. She required parenteral

>> nutrition when she was eighteen month old (for severe malnutrition).

>> Intestinal biopsy (2002): moderate partial vellous atrophy.

>> 

>> 

>> 

>> Her sister (AM) suffers from refractory celiac disease (CD) with persistent

>> antigliadin and antitransglutaminase positive despite strictly gluten free

>> diet.

>> 

>> 

>> 

>> The patient (RM) presents negative celiac serology. HLA is not compatible

>> with celiac disease.  Intraepitelial lymphocytes are not compatible with

>> CD (in 2002 and now). Antienterocyte antibodies are also negative (in 2002

>> and now).  CD25+ and FOXP3+ are in normal  range (this month). She has

>> persistent IgE elevation (around 1000 IU/mL). Anti TPO levels were slightly

>> elevated once (Dec?08) but now are in normal range. Anti PCA (parietal cell

>> antibodies are slightly positive: 1/80 ) ANA + 1/40 (normal) .  We have

>> ruled out food allergies.  IgG,A,M normal. Lymphocyte subpopulations:

>> normal.

>> 

>> She is now admitted for severe diarrhea and malnutrition.

>> 

>> 

>> 

>> We are not sure about starting steroid therapy. We'd really appreciate

>> helpful suggestions about diagnosis and treatment.

>> 

>> ------------------------------

>> Share your memories online with anyone you want anyone you

>> want.<http://www.microsoft.com/middleeast/windows/windowslive/products/photos

>> -share.aspx?tab=1>

>> 

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> ------------------------------

> 

> Message: 4

> Date: Wed, 12 Aug 2009 17:51:32 +0900

> From: "YaeJean Kim" <yaejeankim at skku.edu>

> Subject: Re: [PAGID] Autoinmmune enteropathy?

> To: <pagid at list.clinimmsoc.org>

> Message-ID: <003301ca1b2a$1792bf30$67de0477 at SEOUL.SMC.NET>

> Content-Type: text/plain; charset="iso-8859-1"

> 

> In addition, any possibility for eosinophilic gastroenteritis?

> 

> Sometimes they don?t have eosinophilia in the blood....

> 

>  

> 

> YJ

> 

>  

> 

> -----------------------------------------------

> 

> YaeJean Kim, MD

> 

>  

> 

> Assistant Professor

> 

> 50 Irwon-dong Gangnam-gu

> 

> Division of Infectious Diseases

> 

> Department of Pediatrics

> 

> Samsung Medical Center

> 

> Sungkyunkwan University

> 

> Seoul, 135-710

> 

> South Korea

> 

> tel) 82-2-3410-3539, 0987

> 

> fax) 82-2-3410-0043

> 

> yaejeankim at skku.edu

> 

>  

> 

>   _____  

> 

> From: pagid-bounces at list.clinimmsoc.org

> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez

> Sent: Monday, August 10, 2009 10:53 PM

> To: pagid at list.clinimmsoc.org

> Subject: Re: [PAGID] Autoinmmune enteropathy?

> 

>  

> 

> normal stool D/R. worm infestations ruled out

> 

>  

> 

> Nacho Gonzalez Granado

> 

>  

> 

> 2009/8/10, Sabiha Anis <sabiha_anis at hotmail.com>:

> 

> What are the results of stool D/R.  Have you ruled out worm infestations?

>  

> Regards

> Sabiha anis

>  

> 

>   _____  

> 

> Date: Fri, 7 Aug 2009 14:00:55 +0200

> From: nachgonzalez at gmail.com

> To: pagid at list.clinimmsoc.org

> Subject: [PAGID] Autoinmmune enteropathy?

> 

> 7 year old female (RM)  with severe chronic diarrea with neonatal onset.

> Cuacasian. She has persistent malabsortion. She required parenteral

> nutrition when she was eighteen month old (for severe malnutrition).

> Intestinal biopsy (2002): moderate partial vellous atrophy.

> 

>  

> 

> Her sister (AM) suffers from refractory celiac disease (CD) with persistent

> antigliadin and antitransglutaminase positive despite strictly gluten free

> diet. 

> 

>  

> 

> The patient (RM) presents negative celiac serology. HLA is not compatible

> with celiac disease.  Intraepitelial lymphocytes are not compatible with CD

> (in 2002 and now). Antienterocyte antibodies are also negative (in 2002 and

> now).  CD25+ and FOXP3+ are in normal  range (this month). She has

> persistent IgE elevation (around 1000 IU/mL). Anti TPO levels were slightly

> elevated once (Dec?08) but now are in normal range. Anti PCA (parietal cell

> antibodies are slightly positive: 1/80 ) ANA + 1/40 (normal) .  We have

> ruled out food allergies.  IgG,A,M normal. Lymphocyte subpopulations:

> normal.

> 

> She is now admitted for severe diarrhea and malnutrition.

> 

>  

> 

> We are not sure about starting steroid therapy. We'd really appreciate

> helpful suggestions about diagnosis and treatment.

> 

> 

> 

> 

> 

>   _____  

> 

> Share your memories online with anyone you want anyone you want.

> <http://www.microsoft.com/middleeast/windows/windowslive/products/photos-sha

> re.aspx?tab=1> 

> 

>  

> 

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> End of PAGID Digest, Vol 52, Issue 2

> ************************************