[CIS PIDD] [cis-pidd] 14 month old with Hypogamma

Mon Sep 25 10:10:20 EDT 2017

Hi, Pam:

I'm sure others would know, but some of the Boston Kids people are putting together a database for the very-early onset IBD kids (Boston, I think ... I can't remember the name right now).   They are worth bugging.  I am sure IL-10/IL-10R would be mentioned ...

Out of curiosity -- has the infant's weight improved when she was placed on TPN/Elecare?  The disaccharidase deficiency would suggest that this should help -- and if it does, the immunodeficiency may "just" be due to severe/persistent GI loses.  If not, then there is likely a bigger problem.  You mentioned the infant is breastfed.  Is this still occurring?  (Are her symptoms because of continued milk exposure from mom ... or, conversely, is severe hypogammaglobulinemia being masked because of breastmilk?)

Is there a TREC count or CD45RA/RO enumeration available?

I would not put too much stock on the C diff x 1.  I would still treat if the infant is symptomatic -- but a good fraction of young (healthy) infants are C diff-colonized.  I would not be sure how to interpret a clinical response or lack-of-response to 14 days' worth of metronidazole in an infant.  (And regardless, I would not give metronidazole long-term, because of the risk of neuropathy)

CMV is somewhat difficult to manage/interpret.  Most people in the pediatric ID world would agree that a congenital case should be treated if treatment could be started early (with the results from Alabama trials).  Post-natal acquisition ... this is a minefield.  In this case, since an immune problem is part of the D/Dx, if there is some evidence of lack of control (e.g., blood PCR in the 1000+s), I probably would start PO valganciclovir as a trial (I assume the pathologist did a proper screen for inclusion bodies, etc., for your "no evidence of CMV enteropathy").

I hope this helps.

    - Karl

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Scientist II and Assistant Director, Center for Infectious Diseases and Immunology
RGH Research Institute | Rochester General Hospital | Rochester Regional Health
1425 Portland Ave., Room R-403, Rochester, NY   14621
Tel  585-922-3709  |  Fax  585-922-2415

-----Original Message-----
From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Monday, September 25, 2017 8:45 AM
To: CIS-PIDD
Subject: [cis-pidd] 14 month old with Hypogamma

Good Morning,

My colleague asked me to post a case of a 14 month Middle Eastern female who has chronic diarrhea. Has had the diarrhea for approx 6 months however they have been gradually improving. Diarrhea does not occur at night, 3x a day.  No bleeding assoc with the diarrhea and no relationships to food or medications.

Parents are not related by blood
The child was hospitalized for FTT, vomiting, diarrhea and was found to have CMV hepatitis.  EGD/colonoscopy was done which showed diffuse disaccharidase deficiency with no evidence of CMV enteropathy.  But found have non specific colitis on sigmoidoscopy.

US abdomen is normal. Patient was on TPN and is currently on Elecare
26 cal. She received 2 doses of IVIG because she was found to have low IgG and they wanted to see if it would help with her illness at the time.
She did have CDiff x1, and treated with Flagyl. She has also had RSV, UTI and this all has been happening since 3 months old. Only 1 OM in her lifetime. No PNA, no sinusitis, no abscesses, no cellulitis, no thrush. She did need IV Abx when she was hospitalized. No issues with her skin teeth or nails. She sweats. No family history FT, Vaginal, no complications. Breastfed. Normal NBS. No miscarriages

IGA 31
IGM 27 (LOW)
IGE 8
IGG 164 (post IVIG about 6 months)
C4 21
CH50 65 (HIGH)
NK CELL FUNCTION Normal
Electrolytes are normal, except Potassium was elevated at 5.7 Albumin 4.4 high ALT 105 (High) AST 75 (HIGH NORMAL 0-75) DIPTHERA AND TETANUS ARE PROTECTIVE (BUT POST IVIG) PNEUMOCOCCALS POST IVIG are all <0.3, except one is 0.4 and one is 0.8 (out of 23 titers)

CBC was elevated absolute LCs 9.5, Mono 1.4 and Eos 0.7 Nomral H/H WBC elevated at 17.4 Platelets high normal 441

FLOW CYTOMETRY: Abs CD19 is normal 1378 but the % is low 14.5 (15-39%)
CD3 abs is elevated 7581 (1600-6700)
% cd3 79.8% (54-76%)
Absolute CD4 3487 (1000-4600)
CD4% 36.7 (31-54)
Absolute CD8 is elevated at 3943 ( 400-2100) CD8% 41.5 (12-28%)
CD4/CD8 ratio is 0.88 LOW
Abs CD56/16 456 (200-1200)
Patient has Type O blood and there were no Antibodies produced to A or B on isohemagluttin testing

HIV RNA PCR and DNA PCR pending. Mitogen pending

Any additional thoughts and recommendations and diagnoses are appreciated.
Thank you
Pam

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