[CIS PIDD] [cis-pidd] XL-HIGM patient with acute demylination

[CIS-PIDD]

Redfearn, A., Pennie, R.A., Mahony, J.B., Dent, P.B.:  Progressive multifocal leukoencephalopathy in a child with immunodeficiency and hyperimmunoglobulin M.  Pediatr Infect Dis J, Vol 12, pp 399-401, 1993.


I would proceed to biopsy

Peter Dent


Peter B. Dent MD, FRCPC
Professor, Pediatrics, McMaster University
Division of Rheumatology & Immunology
McMaster Childrens' Hospital
1280 Main St W. L8S 4K1
Phone:  905-521-2100 ext 75382
FAX: 905-521-4968
E-mail: dentpb at mcmaster.ca



From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: July-07-16 3:52 PM
To: CIS-PIDD
Subject: [cis-pidd] XL-HIGM patient with acute demylination

I hope this doesn't come through the tree times that I have sent it. I think the others have been blocked due to the images (MRI).


Dear colleagues

Would value opinions on a 4 ½ year old boy recently diagnosed with XL-HIGM with regards tobrain biopsy. He presented with clinical and imaging features consistent with tumefactive demyelination (see below), with immunology investigations prompted by a finding of profound hypogammaglobulinaemia in paired serum sent with CSF for oligoclonal band analysis. IgM raised, no CD40L expression and genetic testing confirmed splice site mutation in CD40L.

Onset of neurological features was 6 weeks ago initially with left foot drop (preceded by viral URTI), with MRI consistent with ADEM. Treated with steroid, but continued to progress (unable to walk, requiring full assistance with ADLs, followed by onset  of left arm neglect), with MRI progression (tumefactive demyelination), prompting further evaluation and treatment with high dose IVIG. No mass effect or oedema at any point. Images are attached. No fevers or B symptoms. CSF pristine, culture negative, cryptococcal antigen negative, nil on fungal culture.  CSF also negative on PCR for enterovirus, parechovirus, JC, BK, CMV, EBV, HSV, VZV, measles, parvovirus, HHV6, toxoplasma (adenovirus pending). Aside from 48hrs of empiric cefotaxime and acyclovir 2 weeks ago, there has been no further antimicrobial treatment.

For the last week has been neurologically stable, without progression and with some MRI improvement. Currently tapering steroid at ~2mg/kg/day.

Our dilemma is that the process has been indolent, he's stable and biopsy not without morbidity. Most viruses should have been able to be identified on CSF and that if a viral pathogen were identified on biopsy that treatment options may be limited. However, identification of certain viruses (e.g. JC) may be aided by immunohistochem on biopsy, and if present would certainly preclude future HSCT due to risk of reactivation on myeloablation. Imaging features not consistent with lymphoma or PML, but may need ruling out.

Our questions are as follows:

1) Has anyone else seen a similar rapid onest demylinating condition in patients with XL-HIGM?
2)The radiological features remain most consistent with demyelination, but in the absence of this being a recognised phenomenon in XL-HIGM our intention is to proceed to a tissue diagnosis considering ddx of atypical  lymphoma / PML/  infectious pathogen-  We would welcome thoughts on this.
3) If proceeding to biopsy are there any specific tests on tissue (microbiological or histological) that others have found  beneficial at determining a cause?

Kind regards
Dr Kahn Preece

Kahn Preece
Paediatric Immunologist
Starship Children's Health
Auckland, New Zealand


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