[CIS PIDD] [cis-pidd] Newborn with chronic diarrhea and near absent plasma cells in the gut mucosa
Yeşim Yılmaz Demirdağ
dryesimyilmaz at gmail.com
Mon Oct 14 10:43:00 EDT 2013
wow, thanks
Yesim
On Mon, Oct 14, 2013 at 10:37 AM, Sullivan, Kathleen <
sullivak at mail.med.upenn.edu> wrote:
> I would also consider tricho-hepato-enteric syndrome. Tip is bamboo hair.
>
> On Oct 14, 2013, at 10:28 AM, Yeşim Yılmaz Demirdağ 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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> ---
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>
> Kate Sullivan, MD PhD
> Professor of Pediatrics
> ARC 1216 Immunology CHOP
> 3615 Civic Center Blvd.
> Philadelphia, PA 19104
> (p) 215-590-1697
> (f) 267-426-0363
>
>
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> The CIS-PIDD listserv is supported by:
>
>
> *The science & practice of human immunology*
>
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> E: info at clinimmsoc.org
>
> Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup>to join!
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