[CIS PIDD] [cis-pidd] Newborn with chronic diarrhea and near absent plasma cells in the gut mucosa

[Yeşim Yılmaz Demirdağ]

Newborn screening was normal. CD45RA is normal. PHA proliferation is
pending. Thanks.
Yesim


On Mon, Oct 14, 2013 at 10:35 AM, Ramsay L Fuleihan <
r-fuleihan at northwestern.edu> wrote:


>  I would rule out SCID with PHA proliferation and looking for maternal T

> cells by FISH and/or chimerism studies. What did his newborn screen show?

>

>  Ramsay

>

> Sent from my iPhone

>

> On Oct 14, 2013, at 9:28 AM, "Yeşim Yılmaz Demirdağ" <

> dryesimyilmaz at gmail.com> wrote:

>

>

> There is no history of IUGR, no cytopenia, no nail, or skin symptoms.

> Thanks!

> Yesim

>

>  Yesim Yilmaz Demirdag, MD

>

> Assistant Professor of Pediatrics

>

> Division of Allergy and Immunology

>

> Columbia University Medical Center

>

> 3959 Broadway, Room 107N

>

> New York, NY 10032

>

> phone: (212) 305 2300

>

>

>

>

>

> On Mon, Oct 14, 2013 at 10:21 AM, Jyonouchi, Soma C <

> JYONOUCHI at email.chop.edu> wrote:

>

>>  Is there any history of IUGR?  Dyskeratosis congenita patients can

>> develop a severe enteropathy with apoptotic cells on biopsy.  Patients can

>> also have a T+B-NK- phenotype.  It sounds like it would be worthwhile to

>> send telomere length testing for this patient.

>>

>>

>>

>> Best,

>>

>>

>> Soma Jyonouchi, MD

>> Children's Hospital of Philadelphia

>>  Division of Allergy and Immunology

>>  Phone (215) 590-2549

>> Fax (215) 590-4529

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

>> *From:* Yeşim Yılmaz Demirdağ [dryesimyilmaz at gmail.com]

>> *Sent:* Monday, October 14, 2013 10:16 AM

>> *To:* CIS-PIDD

>> *Subject:* [cis-pidd] Newborn with chronic diarrhea and near absent

>> plasma cells in the gut mucosa

>>

>>    Dear all,

>>

>>  I would like to ask your advice in this case:

>>

>>  The baby is a one-month-old boy, he is ex-premie at 35 wks EGA.

>>

>>  Pregnancy was uncomplicated with the exception of unknown GBS status.

>> Baby had some apnea episodes and stayed in NICU for 2 days on Amp and Gent.

>> He was sent home on day 3, but readmitted on day 6 with hypovolemic shock

>> and kidney failure due to severe diarrhea.

>>

>>

>>  Cultures were all negative. The stool pH was 3.8.  Stool reducing

>> substances, eosinophils, wright stain, and Charcot-Leyden crystals were

>> negative.  Stool guaiac was +.  Stool cultures, ova and parasite exams, and

>> rotavirus antigen studies were negative.  Stool amylase was <3, lipase was

>> 20, and fecal fat was borderline elevated.  Neutral fat was <60

>> droplets/HPOF, with total fat <100 droplets/HPF.   Giardia and Cryptococcus

>> were negative. No viral study was sent at that time.

>>

>> Intestinal biopsy report: Small intestinal mucosa with villous blunting

>> and rare intraepithelial lymphocytes, with paucity to nearly absent mucosal

>> plasma cells. Gastric oxyntic mucosa with a rare apoptotic body. Negative

>> for Helicobacter pylori (H&E stain). Rectum, biopsy: Colonic mucosa with

>> crypt distortion and crypt apoptosis and absence of lamina propria plasma

>> cells.

>>

>>

>>  Immunoglobulins: IgG: 474 mg/dl, IgA < 6 mg/dl, IgM: 18.8 mg/dl (day 25

>> of life)

>>

>>

>>  Lymphocyte subsets: Normal T cells, slightly decreased NK cells (144

>> cells/mcl (170- 1100), and low B cells (5%, absolute: 118 cells/mcl).

>>

>>

>>  He is clinically well now on TPN, slowly tolerating elemental formula.

>> He has not been on any antibiotics except for the first few days of life.

>>

>>

>>  Thank you and have a great week!

>>

>>

>>  Yesim

>>

>>

>>

>>  Yesim Yilmaz Demirdag, MD

>>

>> Assistant Professor of Pediatrics

>>

>> Division of Allergy and Immunology

>>

>> Columbia University Medical Center

>>

>> 3959 Broadway, Room 107N

>>

>> New York, NY 10032

>>

>> phone: (212) 305 2300

>>

>>

>>

>>

>>

>>  ---

>>

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