[CIS PIDD] [cis-pidd] Febrile 7 month old boy

Tue Jun 28 06:25:11 EDT 2016

We would start anakinra as both diagnostic approach and therapy.  You’ll know in a day or two if it is working.

IL-2R is a bit higher in babies than the usual normal range so I am not sure I would attribute much to that but always smart to think of HLH.

I do not think that NLRC4 is on most fever gene panels and it has an IBD-HLH phenotype so you might stay on top of that.

Kate Sullivan, MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363

On Jun 27, 2016, at 8:40 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

I thank you in advance as I am struggling with this case and could use your expertise.  This is my first posting and I apologize for it being so very long.

Pt is a 7 month old male who presents with nearly constant fevers of unknown origin. He was born full term, uncomplicated pregnancy, only child in the family, and from unconsanguinous parents.  Fevers started at 2-3 weeks of age and have been ongoing with at most a few days to a week between febrile episodes.  There is no discernable pattern; fevers range from 101-103F and do respond to antipyretics.  He has no consistent symptoms with his fever other than being slightly fussy (no vomiting, respiratory symptoms, rash, etc.).  He did have mild truncal hypotonia a few times and, during 1 fever, an episode of upper extremity tremor.  He has crossed percentiles for weight from birth to 4 months, but has been tracking curve appropriately and current weight is 98% of IBW.  He was exclusively breast fed until 2 weeks ago when mom began occasionally supplementing with formula and adding oat to thicken.

Fevers have resulted in 3 hospitalizations and extensive workup.  No source or cause has yet been found.

Most Noteable Laboratory Workup (abnormal values in red):

  *
2 weeks of age (inpatient):  CBC/diff normal; CMP with ionized calcium 1.34 (nl = 1.12-1.32); UA clear; RSV negative; CRP normal at 0.6; negative urine culture, blood culture, stool culture, and LP
  *
4 weeks of age (inpatient): CBC/diff normal; negative urine culture, blood culture; bone scan normal
  *
2.5 months:  CBC/diff with platelet count elevated at 548; normal IgG, IgA, IgM
  *
4 months: CMV quantitative normal; lymphocyte subset panel normal; CMP with calcium 11.1 (nl = 9-11); CBC with platelets 631,000; ESR elevated at 24, CRP elevated at 6.71
  *
5 months:  CRP elevated at 7.4; parvovirus PCR negative; EBV PCR negative; IgG, IgM, IgE, and IgA normal; IgD <1; nasopharyngeal swab/viral respiratory panel by PCR—negative for all viruses, Bordetella, Chlamydophilia and mycoplasma; Quantiferon TB Gold – negative; Fecal calprotectin elevated at 391; cocci, toxo, parvo, EBV – negative; CMV PCR- negative; ferritin normal; CH50 normal; ANA negative
  *
6 months (inpatient):  CBC with low WBC of 3,600, low Hgb 10.1, low ANC of 1000, and low ALC of 2.0; lymphocyte subsets with low CD3 1348, CD4 931, CD8 366; CMP normal; CK 134 and 177 (H); LDH 488 (H); ferritin 132 (nl); TSH 6.16 (H); FreeT4 1.24 (nl); C3 77; C4 18; CRP  <0.3; Sweat chloride - nl; peripheral smear with mild normochromic/normocytic anemia, reactive appearing lymphocytes, and borderline thrombocytosis with large platelets
  *
6.25 months:  CBC with low Hb of 9.0 and elevated platelets of 833; normal eye exam
  *
6.5 months:  Quantiferon TB Gold – negative; HIV Ab negative; Fecal Elastase – normal; lymphocyte enumeration normal with no activated T cells and normal switch memory B cells; elevated IL2R of 1808 (normal 406 to 1100); Bone marrow biopsy normal though anemia of chronic disease (normal iron sat and ferritin, but low iron saturation) and a reactive thrombocytosis, without evidence of HLH
  *
7 months (this week):  planning to send fever gene panel; GI planning to EGD and flex/sig

Radiology:

  *
Ultrasound abdomen complete- Normal exam
  *
Echocardiogram - normal
  *
Brain MRI - normal
  *
Bone scan - normal
  *
CXR normal
  *
PET normal except for slightly increased splenic uptake

As above, I am planning to send the fever gene panel this week.  I am not sure on starting any treatment (IL-1 antagonist for example) as I don’t know what I’m treating!

Sincerely,

Cindy Salm Bauer, MD
Co-Director, Eosinophilic Gastrointestinal Disease Clinic
Division of Allergy and Immunology, Department of Pediatric Pulmonology
Phoenix Children's Hospital
1919 East Thomas Road / Phoenix, AZ  85016 / Tel:  602-933-4063
cbauer at phoenixchildrens.com<mailto:cbauer at phoenixchildrens.com>

Clinical Assistant Professor, Department of Child Health,
University of Arizona College of Medicine

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