[CIS PIDD] [cis-pidd] infant with aseptic meningitis, ITP, fever, and hepatosplenomegaly

[CIS-PIDD]

Dear Markus,
Thanks for these suggestions. Some answers below:

platelets - dropped to 50k from normal and have risen slightly to 80k without treatment. No clear evidence of bleeding but experienced a drop in hemoglobin attributed to phlebotomy.

TORCH infections + EBV - no copies detected in blood or CSF for EBV, CMV. Need to check on pertussis; although, respiratory PCR panels that contain pertussis have been negative. Patient is not dysmorphic and appears normal.

CD45RO is gated on CD4+CD3+ cells in the blood. It is maybe a little elevated at this age but seems within normal range. T cells were not stained but can be. Is that to rule out CD27 deficiency or for other reasons? TCR gd was not checked but CD4 + CD8 equals total CD3 count.

HLH is still a consideration. Ferritin has not risen above 200. Normal triglycerides.

Megakaryocytes were normal on the bone marrow. This was discussed with the heme/onc team. Peripheral platelet volume is slightly elevated above reference.

CRP and procalcitonin have been rising recently. CRP has not been above 2. Procalcitonin is now 1.5 and has not been higher.

Autoinflammatory disease is on the differential, and exome sequencing will be sent after we clear all of the insurance and administrative issues. Is there a was to narrow down which autoinflammatory disease while awaiting the exome results?

I will let you know if new data becomes available.

Warm regards,
Jordan
________________________________
From: cis-pidd at lyris.dundee.net [cis-pidd at lyris.dundee.net] on behalf of CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, April 20, 2017 12:24 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] infant with aseptic meningitis, ITP, fever, and hepatosplenomegaly

Dear Jordan,
I don't think the ITP is proven by positive Ab tests, neither does ITP rule out infection. How low are the ptl, which support/treatment did she respond to? Many infections at this age cause thrombocytopenia with or without an immune mechanism. Pertussis, CMV, EBV, rubella...? Are the CD45RA data you state percent of T cells (normal)? What about gdTCR? What is the microscopic platelet volume and the IPF? Could it be HLH? Were there any cerebral findings, or only meningeal? What about CRP, sIL2R, ferritin? Did you think of an autoinflammatory disease? Did you detect CD27 on T cells? Any dysmorphia? Did you check if Megas were really normal? Fanconi?
Only a few thoughts.
Best
Markus

Markus G. Seidel, M.D. | Professor of Translational Pediatric Hematology and Immunology | Div. of Pediatric Hematology-Oncology | Dept. of Pediatric and Adolescent Medicine | Medical University Graz | Auenbruggerpl. 34/2 | A-8036 Graz | Austria | T. 0043 316 385 80215<tel:0043%20316%20385%2080215>| F. 0043 316 385 13717<tel:0043%20316%20385%2013717> | Secr. 0043 316 385 13485<tel:0043%20316%20385%2013485> | sent from my mobile phone | please excuse typos and terseness

Am 20.04.2017 um 07:13 schrieb CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>:

Dear all,

We were called to consult on a now 3-month-old girl with aseptic meningitis and ITP. She had an unremarkable birth history. She initially presented at 10 week old with persistent fever despite being well appearing. After being sent away from 2 ERs, the third ER performed a lumbar puncture with 1000 WBC and no red cells. There was an even spread between PMN, monos, and lymphocytes. Protein mildly elevated and glucose mildly reduced. Bacterial, fungal, mycobacterial, and viral studies have been negative from CSF and blood. Over the past 3 weeks, LP has been repeated twice with similar result. Fevers have been intermittent despite appropriate antibiotic therapy, and clinically she appears well. MRI of the brain and spine have demonstrated leptomeningeal enhancement extending to cervical nerve roots consistent with the CSF findings. There was restricted diffusion in the extra-axial space over the temporal lobes. No basal ganglia calcification identified on head CT or MRI.

During her admission for the above, she was noted to have mild hepatosplenomegaly by abdominal ultrasound, and then she subsequently developed immune thrombocytopenia with confirmed platelet glycoprotein antibodies detected in her blood. Her platelet count was normal at the time of admission. No other organ disease has been identified. There is no rash, and she has normal growth with normal PO intake and no evidence of enteropathy. She has had temps as high as 101.5 on 3 occasions, and outside of fever, her clinical appearance unremarkable.

Initial immune studies have been sent and are copied below:
WBC 23200 (ANC 4500, AMC2500, ALC 20000, AEC1100)
CD19 6475 (44.3%)
CD8 1768 (12.1%)
CD4 5320 (36.4%)
CD3 7118 (48.7%)
CD16/56 804 (5.5%)
CD45RO 11.3
CD45RA 88.1

IgM (164)
IgG (689)
IgA <40.
IgE 5


Bone Marrow showed monocytosis with normal cellularity (reported as 100%) and trilineage hematopoiesis.  No excess blasts or hemophagocytes. Normal cytogenetics.  Additional genetic studies for JMML are pending.

We are arranging for trio exome sequencing.

Questions:
1. Does the presence of ITP rule out an infectious cause for the meningitis?
2. What additional workup would you recommend to assist in diagnosis (much workup was left out for the sake of brevity)?
3. Has anyone been in the same or similar situation?
4. The marked elevation of all white blood cell lineages suggests widespread dysregulation. We are considering starting corticosteroids. Is there any reason to not do so or to try a different immunosuppressive medication?

Thanks in advance for your thoughtful responses!

Jordan

Jordan Abbott, MD
National Jewish Health





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