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

[Forbes, Lisa R.]

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<mailto:dryesimyilmaz at gmail.com>>
Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Date: Thursday, December 5, 2013 11:15 AM
To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto: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<mailto:yyd2101 at columbia.edu>










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