[CIS PIDD] [cis-pidd] Infant with severe diarrhea and pseudomonas infection

[Haines, Kathleen M.D.]

I would be grateful for some direction as to where to go with this infant, who presented at 6 weeks of age with severe diarrhea, pseudomonas at 3 sites and thrombophilia .    Any suggestions for further analysis would be helpful, particularly if you add where they could be obtained.  The insurance is poor.

The patient is now 4 mos of age.  He was born to non-consanguinous parents of an uncomplicated pregnancy by C-section as this was the third repeat C-section.  He had no in-hospital complications; he was fed by breast milk.  Newborn screen, including TRECs, was normal.  At approximately 6 weeks of age his mother noted some blood streaks in the stool and his stooling increased in frequency.  He became irritable and was sent to the emergency service where he was noted to have a scaly rash and be severely dehydrated with a temperature of 102.  He was admitted for rehydration and evaluation for infection.
Multiple consults to evaluate initial elevated WBC, elevated creatinine, hyperkalemia, skin rash, diarrhea were obtained with the following opinions:  stressed marrow due to severe dehydration, kidney injury due to severe dehydration, CAH negative, skin rash was non-specific xerosis.  Gastroenterology gave  an extensive differential diagnosis but no specific etiology was noted for diarrhea.
Approximately one week into his hospitalization he was noted to have an external otitis which cultured positive for Pseudomonas which provoked an Immunology consultation.  History was notable for a death at age 2 of his mother's sister  (maternal aunt) possibly due to meningitis.  His father brother (paternal uncle) died at age one of unknown cause.  Both of these deaths occurred in South America.
He progressed to have a neck mass.  On CT imaging a jugular vein thrombosis as well as a sub-mandibular abscess was seen.  This was due to Pseudomonas and required drainage.  A Broviac catheter was placed and the subcutaneous track became infected, also with Pseudomonas.   The broviac was removed and a line inserted in the groin.  This immediately became partially thrombosed but did not become infected and did not have to be pulled.  He was (and is) treated with low-molecular weight heparin.
Immunology workup so far normal as follows:  CBC - WBC initially >50,000 but decreased and remained at 15 to 10 K, ANC 4K to 8K, ALC 2K to 6K, platelets 280 to 600K, normal size
Repeat TREC (Mayo) normal
CD3--4847
CD4 - 3794
CD8--984
CD56--140
CD19-2037
CD20-29%
CD4+CD45RA+75%, CD4+CD45RO+25%
FISH for maternal cells - 100% XY
Mitogens to  PHA, PWM "normal" (Mayo)
CD18 normal
CH50 - normal
TLR (ARUP)  - normal cytokine production to 6  ligands
Wiscott Aldrich normal
Normal IgG and M (drawn to determine if he needed Ig replacement of maternal Abs due to severe enteropathy)
Microarray showed no clinically significant copy #s but a long stretch of homozygosity at Chromosome 1.
Thrombophilia evaluation was non revealing.

He was discharged mid-December and I saw him Dec. 30.  He looked well and was gaining weight on an elemental formula, although gastroenterology feels his weight  gain could be more robust.


Kathleen A. Haines, MD
Section Chief, Pediatric Immunology
Section of Pediatric Rheumatology and Immunology
Joseph M. Sanzari Children's Hospital
HackensackUMC
30 Prospect Ave.
Hackensack, NJ  07601

Tel:  551-996-5306
Fax: 201-996-9815
email:  khaines at hackensackUMC.org

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