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

[Sullivan, Kathleen]

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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> 


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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