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

[Yeşim Yılmaz Demirdağ]

Dear all,
I would like to give you an update on a previous case I had presented here.
This was a newborn boy with chronic secretory diarrhea and no plasma cells
in the intestinal biopsy.
Finally WES result came back and it is positive for heterozygous mutations
in MYO5B gene - responsible for microvillous inclusion disease. Both
parents are carriers.
Initial pathologic findings at 1 and 2 months of age had ruled out
microvillous inclusion disease on this patient. However, repeat biopsy (at
4 months of age) was consistent with that. Also, there were normal number
of plasma cells and lymphocytes in the repeat biopsy specimen.
Thanks again for all your help.
Yesim


Yesim Yilmaz Demirdag
Columbia University Medical Center
Phone: (212) 305 2300


---------- Forwarded message ----------
From: Yeşim Yılmaz Demirdağ <dryesimyilmaz at gmail.com>
Date: Thu, Dec 5, 2013 at 12:15 PM
Subject: newborn with chronic diarrhea and decreased plasma cells in the
intestine
To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>


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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