[CIS-PAGID] Infant with fever, elevated inflammatory markers, and abscesses

[Holland, Steven (NIH/NIAID) [E]]

PAPA is a good thought and would go along with the pathergy. Sequencing of PSTPIP1 along with CIAS1 might be wise.

Steve


On 4/10/12 3:09 AM, "Mikko Seppanen" <mikko.seppanen at hus.fi> wrote:


Dear Joyce,

As an adult physician, I can only add that sterile abscesses at puncture sites  is mainly seen in Behcet's disease ("positive pathergy test"), but has also been reported to occur in simple pyoderma gangrenosum, in Sweet's syndrome (also in children),  as well as very recently in PAPA (ref below). Steve Holland might be interested?

Arthritis Rheum. <http://www.ncbi.nlm.nih.gov/pubmed/22161697>  2011 Dec 12. doi: 10.1002/art.34332. [Epub ahead of print]
Genotype, phenotype, and clinical course in five patients with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
Demidowich AP <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Demidowich%20AP%22%5BAuthor%5D> , Freeman AF <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Freeman%20AF%22%5BAuthor%5D> , Kuhns DB <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Kuhns%20DB%22%5BAuthor%5D> , Aksentijevich I <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Aksentijevich%20I%22%5BAuthor%5D> , Gallin JI <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Gallin%20JI%22%5BAuthor%5D> , Turner ML <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Turner%20ML%22%5BAuthor%5D> , Kastner DL <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Kastner%20DL%22%5BAuthor%5D> , Holland SM <http://www.ncbi.nlm.nih.gov/pubmed?term=%22Holland%20SM%22%5BAuthor%5D> .

Yours,

mikko

__________________________________________________
Mikko Seppänen, MD, PhD
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EM(E)A Expert, PIDDs and Intravenous Immunoglobulin Therapy

Immunodeficiency Unit
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Lähettäjä: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] Puolesta Perez, Elena
Lähetetty: 10. huhtikuuta 2012 6:21
Vastaanottaja: <pagid at list.clinimmsoc.org>
Aihe: Re: [CIS-PAGID] Infant with fever, elevated inflammatory markers, and abscesses


On first glance, your case reminds me of a baby we ultimately diagnosed with HLH who had draining abscesses at sites of previous IM ceftriaxone requiring wound vacs. Does baby meet any clinical criteria for HLH?

Elena

Sent from my iPhone


On Apr 9, 2012, at 9:52 PM, "Joyce Yu" <joyce.yu at mssm.edu> wrote:

Hi all,

I was wondering whether anyone would have any thoughts or suggestions on the diagnosis and/or management of this patient (and sorry for the long email)-

9 mo girl who was admitted to our hospital with 5 weeks of recurring fevers, elevated white counts and inflammatory markers, and abscesses. Initially had coxsackie with fever and classic coxsackie lesions. The lesions resolved after a week but she continued to have fevers daily up 102-103. She was initially admitted to another hospital where she continued to have daily fevers but also developed soft tissue abscesses at the sites of a peripheral IV and an IM ceftriaxone injection. A work up for a fever source, including blood and urine, was negative and she was discharged on oral Clindamycin and Bactrim for the abscesses. The injection site abscess was drained and has not grown anything to date. She then came to our hospital where she has been having CRPs in 18-20's with high WBCs 25K-30K with elevated neutrophils and lymphocytes and elevated platelet counts. ESR from a few days ago was 31. Her injection site abscess is now resolving but the IV site abscess is still actively d raining some purulent material which also has not grown anything to date. Aside from the daily fevers, the rest of her exam is unremarkable.

Her medical history was significant for an emergency c-section which was complicated by RDS and mild hypoxic-ischemic encephalopathy. The placenta at the time reportedly had fungal-like elements on visual inspection but cultures were all negative and the placental tissue was unfortunately discarded before further studies could be done. She also had elevated CRP, ESR, and WBC in similar ranges at the time and was noted to have multiple superficial abscesses (neck, chin, extremities but not necessarily at injection sites). She had normal CSF, blood, and urine cultures and no loci of infection identified on imaging. Her beta-glucan level at the time was negative but her abscesses eventually resolved on several weeks of IV amphotericin. We had performed a DHR for CGD and genetic studies for IL-1R mutations which were both normal.  She had normal umbilical cord separation and no other clinical features such as recurring diarrhea or resp issues. Her WBC and CPR eventually normalized and she was discharged around 1 month of age from the NICU. She did well clinically in the interim with no fevers, rashes or any other recurring or chronic symptoms, good growth, and near normal development until she got sick 5 weeks ago. Family is Irish and Italian and there is no significant family history.

Lab testing so far:
WBC: 38.1 / Hb: 7.8 / Hct: 23.5 / Plt: 463
17% Bands 55%N 16%L 10%monos
CRP 22.17 ESR 31

          135 |  98 | 9
          --------------------< 96   Ca: 9.4   and LFT's are normal
          4.6 |  24 | 0.24

C3 171, C4 47 (slightly elevated), CH50 25 (decreased)
IgG 870, IgM 100, IgA 31, IgD 0.8
NP swab + for rhinovirus on admission
1,3 Beta-D Glucan 497 (positive)

UA was unremarkable. Her blood culture on admission is negative so far.
An abdominal ultrasound was normal.

She has been running fairly anemic with all the blood testing in the last few weeks, so I have not yet been able to obtain specific lymphocyte counts. I am thinking whether I should send for flow for LAD, repeat the DHR for CGD, mitogens, and possibly send genetics for CIAS1 mutations.
We will also be doing a FUO work up including an MRI/bone scan for osteo and a cardiac echo.

Although her cultures have been negative, her positive beta-glucan suggests an underlying fungal infection. However, without any identified pathogen to date and considering her prior birth history, is there a specific immunodeficiency or autoinflammatory disease that I should be considering?

Thanks,

Joyce

Joyce Yu, MD
Assistant Professor
Pediatric Allergy and Immunology
Weill Cornell Medical Center
New York, NY








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