[CIS PIDD] [cis-pidd] newborn with chronic diarrhea and decreased plasma cells in the intestine

[Yeşim Yılmaz Demirdağ]

Hi Lisa,
Thanks, yes, we checked telomere length study and it was completely normal.
Yesim

On Thu, Dec 5, 2013 at 12:27 PM, Forbes, Lisa R. <Lisa.Forbes at bcm.edu>wrote:


>   Dear Yesmin,

>

> In my experience, the presence of severe enteropathy with apoptotic cells

> on biopsy in an infant should alert you to look for dyskeratosis congenita.

>  Have you check telomere lengths in this child?  It could also explain some

> of the immune abnormalities.  In this age they will not necessarily present

> with the skin or nail findings.  Is this child microcephalic?  Just a

> thought.

>

> Best,

> Lisa

>  Lisa Forbes, MD

> Assistant Professor, Department of Pediatrics

> Immunology Allergy and Rheumatology

> Center for Human Immunobiology, Medical Director

> 1102 Bates, Suite 330

> Houston, TX 77030

> Phone: 832-824-1319

> Fax: 832-825-1260

>

> From: Yeşim Yılmaz Demirdağ <dryesimyilmaz at gmail.com>

> Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>

> Date: Thursday, December 5, 2013 11:15 AM

> To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>

> Subject: [cis-pidd] newborn with chronic diarrhea and decreased plasma

> cells in the intestine

>

>   Hello all,

>

> I presented this case a month ago, now I would like to give you an update

> and ask your opinion again:

> 2-month and 3-week-old boy with watery projectile diarrhea since birth.

> Immunology was involved because of intestinal pathology: no plasma cells in

> the small intestine or rectum. Other findings included: villous blunting in

> small intestine, apoptotic bodies in the stomach, crypt distortion and

> crypt apopstosis in the colon.

>

> Diarrhea did not respond to bowel rest, worsened on enteral feedings. He

> has been on TPN and receives IV fluid replacement for his diarrhea (up to

> 800 cc/day). He is growing well and he has had NO infections. There is no

> skin rash,  no thrush or diaper rash, and no dysmorphism.

>

> The family history is strongly positive for Celiac disease: Mother's

> sister, mother's father and 2 of his sisters as well as their mother have

> been all diagnosed with Celiac disease and their symptoms resolved after

> they started gluten free diet. Sounds like autosomal dominant inheritance,

> but the baby's mother does not have Celiac disease (confirmed by serology).

>

> Labs:

> ALCs have been above 4000 cells/mm3

> No eosinophilia or elevated IgE

> Intermittent anemia requiring trasnfusions, no or minimal retic response;

> anemia resolved recently.

> Platelets and MPV have been normal

> Initially he had low B cells (112 cells/mcl) and low NK cells, normal T

> cells. About 3 wks later B and NK cells were also normalized.

> Lymphocyte proliferation: Normal to PHA and PWM stimulation.

> Immunoglobulins M and G were normal and IgA was undetectable at 3 wks of

> age.

> IgG has been trending down but I feel it is physiologic. IgA has been

> between < 6 and 8.3 mg/dl.

> Stool A1AT was negative, repeat is pending.

> Zinc level is pending, maternal Zinc level is normal.

>  Foxp3 gene mutation analysis was also normal.

> WES : pending

> SOMA: 15q11.2 duplication - no relevant genes involved.

>

> After recommendations by the group members we checked TREC, lymphocyte

> telemore length study, and hair analysis which were all normal.

>

> Repeat EGD (at 2 months of age) with biopsy showed presence of plasma

> cells in the intestinal mucosa, but not in the rectal mucosa. Other

> findings included partial villous atrophy, crypt hyperplasia, and apoptotic

> cells in the small bowel epithelium, rare apoptotic bodies in the gastric

> mucosa, minimal crypt architecture distortion, occasional crypt apoptosis

> in the colonic mucosa.

> In terms of immunostaining:

> CD19 and CD138  clusters in the l. propria of small intestine. CD20 +

> cells primarily in small lymphoid aggregates. No TCR-gamma/delta positive

> intraepithelial lymphocytes, however they are present in the l. propria (is

> this a normal distribution???). Scattered CD3, CD4, CD8 positive cells in

> l. propria. No increased intraepithelial lymphocytes. EBV negative. CMV

> negative. Normal neuroendocrine cells. No evidence of infection.

>

> Recently Octreotide was started, but his diarrhea only minimally improved

> (500-600cc/d). GI ruled out tufting enterophathy and microvillous inclusion

> disease.

>

> Now with these findings I am not sure if I should continue immunologic

> evaluation, if so what should I be looking for? Could strong family

> history of Celiac disease mean something?

>

> Thank you,

>

> Yesim

>

>

> Yesim Yilmaz Demirdag, MD

> Assistant Professor of Pediatrics

> Division of Allergy and Immunology

> Columbia University Medical Center

> 3959 Broadway Rm 107N

> New York, NY 10032

> phone: (212) 305 2300

> e-mail: yyd2101 at columbia.edu

>

>

>

>

>

>

>

>

>

>

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