[CIS PIDD] ADA SCID with partial reconstitution and chronic leptomeningitis/encephalitis

[Christine M. Seroogy, MD]

Dear Colleagues,


We are caring for a 14 y/o with ADA SCID s/p non-conditioned haploidentical BMT x 2 with a 4 month history of intermittent fevers, headaches, weight loss, myalgias.  He has 100% donor T cells with adequate function and low T cell numbers, on IG therapy, and off of PEG-ADA for years but empirically restarted 2 weeks ago.  His most recent brain/spine MRI demonstrated enhancement of meninges and some parenchymal enhancement (worsening from previous studies).  His CSF has increased lymphs/monos with high protein and low glucose.He had a brain bx 10 days ago:  with no viral inclusions, fungi or bacteria visible (EM and special stains including AFB). There is granulomatous inflammation with no discrete granulomas with numerous macrophages and T cells (CD4:CD8 ratio 3:1), no B cells. One possibility is a neurosarcoid-like picture. Imaging elsewhere does not demonstrate obvious organ involvement outside the CNS.


His notable history in the past year is one episode of ITP responsive to 4 doses of rituxan and non-infectious uveitis responsive to topical steroids.


He has had an extensive infectious disease work-up and my question to the group is if there is an infectious agent we may be missing? Have any of you seen such a case?

Here is the infectious work up to date:


Studies:

Bacterial--

4/29/13 Culture, CSF negative

4/29/13 Lyme PCR (CSF) negative

4/29/13 Bartonella PCR (CSF) negative

4/29/13 AFB smear/culture (CSF) negative

7/11/13 blood, peripheral: negative

7/12/13 blood, peripheral: negative

7/14/13 CSF culture, negative

7/14/13 AFB smear & culture, CSF Negative

7/14/13 16s ribosomal PCR, CSF negative

7/26/13 CSF culture negative

Viral--

4/8/13 EBV PCR negative

4/8/13 CMV PCR negative

4/8/13 Flu A/B, RSV PCR negative

4/9/13 Enterovirus PCR negative

4/23/13 Respiratory viral panel (WI state lab): negative

4/29/13 West Nile PCR (CSF) negative

4/29/13 adenovirus PCR (CSF) negative

4/29/13 CMV PCR (CSF) negative

4/29/13 Arbovirus Ig panel (CSF) Negative

4/29/13 HHV-6 PCR (CSF) Negative

4/29/13 HHV-8 PCR (CSF) negative

4/29/13 HSV PCR (CSF) negative

4/29/13 Enteroviral PCR (CSF) negative

4/29/13 VZV PCR (CSF) negative

4/29/13 EBV PCR (CSF) negative

5/1/13 Enterovirus RNA PCR, stool negative

7/8/13 Resp viral panel (Viracor): positive for rhinovirus

7/8/13 Enterovirus PCR negative

7/11/13 BK virus qPCR: negative

7/12/13 JC virus PCR (blood): positive (very low levels: initially postive at 42 cycles, repeat positive at 36 cycles)

7/12/13 adenovirus PCR: negative

7/12/13 enterovirus PCR: negative

7/14/13 CMV PCR (CSF) negative

7/14/13 JC virus PCR (CSF): negative

7/14/13 BK virus PCR (CSF) negative

7/14/13 Enterovirus PCR (CSF) negative

7/14/13 Adenovirus PCR (CSF) negative

7/14/13 EBV PCR (CSF) negative

7/14/13 LCM IgG/M (CSF) pending

7/14/13 Herpes simplex PCR (CSF) negative

7/16/13 respiratory viral panel (Viracor) positive for rhinovirus

7/16/13 Herpes simplex PCR (blood) negative

7/18/13 blood JC virus qPCR <500/mL

7/23/13 Blood HTLV PCR Negative

7/23/13 Blood HIV RNA, qPCR Not detected

7/26/13 VZV PCR from brain biopsy negative

7/26/13 EBV PCR from brain biopsy negative

7/26/13 CMV PCR from brain biopsy negative

7/26/13 adenovirus PCR from brain biopsy negative

7/26/13 adenovirus PCR from CSF negative

7/26/13 enterovirus PCR from brain biopsy negative

7/26/13 coxsackie/echovirus PCR from rectal swab negative

7/26/13 coxsackie/echovirus PCR, throat swab negative

7/26/13 EBV RTPCR, CSF negative

7/26/13 VZV RTPCR, CSF negative

7/26/13 CMV RTPCR, CSF negative

7/26/13 enterovirus RTPCR, CSF negative

7/26/13 enterovirus culture from CSF, brain, and dura negative at 10 days

8/2/13 respiratory virus panel (in-house) negative

Fungal--

4/29/13 Fungal culture, CSF negative

4/29/13 Histoplasma Ag (CSF) negative

4/29/13 Blastomyces Ag (CSF) negative

4/29/13 Cryptococcal AG, CSF negative

7/14/13 Blastomyces antigen, urine negative

7/14/13 Histoplasma antigen, urine negative

7/14/13 CSF fungal culture NGTD

7/14/13 Cryptococcus antigen, CSF negative

7/26/13 Fungal culture, CSF NGTD

Other--

4/29/13 Mycoplasma PCR CSF negative

7/14/13 Mycoplasma PCR CSF negative

7/14/13 Toxoplasma PCR CSF negative


Thank you

Chris


Christine M. Seroogy MD,  FAAAAI
Associate Professor
University of Wisconsin
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-9721





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