[CIS PIDD] [cis-pidd] Febrile 7 month old boy
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Mon Mar 20 14:27:43 EDT 2017
I wanted to follow up on a case I shared last year and see if anyone had
insight on the recently detected mutation. Briefly, the infant boy had
recurrent fevers (hospitalized multiple times with extensive workup),
anemia of chronic disease, reactive thrombocytosis, and slight hypotonia
last spring/summer/fall. His 37-gene fever panel (MNG Laboratories) was
negative and he didn’t respond much to anakinra. With the tincture of
time, his fevers and symptoms have fortunately resolved. He is now 15
months and doing much better.
Whole exome sequencing revealed 2 variants of unknown significance (VUS):
*1- NLRP12: Heterozygousc.779C>T(p.T260M) inherited from mother.*
2-TREX1: Heterozygousc.391T>G (p.F131V) inherited from father
Since heterozygous variants in the NLRP12 gene have been reported in
association with Familial Cold Autoinflammatory Syndrome, I wonder if this
VUS may be significant?!?! Again, any recommendations would be much
appreciated. Full history with labs and imaging is below.
*Cindy Salm Bauer, MD*
Co-Director, Eosinophilic Gastrointestinal Disease Clinic
Co-Director, Immunohematology Clinic
Assistant Professor, Department of Medicine, Mayo Clinic Arizona
Division of Allergy and Immunology, Department of Pediatric Pulmonology
Phoenix Children's Hospital
1919 East Thomas Road / Phoenix, AZ 85016 / Tel: 602-933-4063
<(602)%20933-4063>
cbauer at phoenixchildrens.com
On Mon, Jun 27, 2016 at 5:40 PM, CIS-PIDD <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
> <(602)%20933-4063>
>
> cbauer at phoenixchildrens.com
>
>
>
> Clinical Assistant Professor, Department of Child Health,
>
> University of Arizona College of Medicine
>
>
>
>
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