[CIS PIDD] [cis-pidd] XLP and cerebral vasculitis

[John Ziegler]

Dear Colleagues

We are seeking advice regarding the management of an 8 year old boy a complicated story; he has cerebral vasculitis and a recent diagnosis of XLP1 (SAP deficiency).

Over the past four years he has had low grade synovitis of small joints, and two episodes of possible pulmonary vasculitis requiring mechanical ventilation, rapidly responsive to steroids, but with a slow recovery of his transfer factor over many months. He also had an episode of aplastic anaemia (spontaneous recovery) along with dysgammaglobulinaemia (now on IVIG) and NK cell dysfunction.  

This week after presenting with mild headaches and episodes of intermittent unilateral blurred vision over a period of months he was diagnosed with widespread cerebral vasculitis affecting many small and medium sized vessels. He has evidence of old infarcts on MRI (c. 2 years), suggesting an indolent process, but with normal clinical neurology.  His CSF protein is grossly elevated with a mild lymphocytic pleiocytosis.  We do not yet have EBV PCR from his CSF but he has been consistently negative from other tissues, and nor do we have pre-IVIG EBV serology.   

There is a small number of cases of lymphocytic cerebral vasculitis in XLP reported, apparently all fatal despite many agents being trialled. We are treating him initially with steroids and anti-platelet dose aspirin, and if he is shown to be EBV positive we would use rituximab. We are typing him for HSCT, however there is no real guidance in the literature on successful definitive treatments.

We would be grateful for your opinions, in particular with the following:

*	Have any of you seen cerebral vasculitis, or other non-HLH associated vasculitis in XLP previously, and what did you use to treat it?
*	Would people favour a brain biopsy to delineate between cerebral HLH and lymphocytic vasculitis, or to detect the presence of tissue EBV (if the CSF is negative)? 

Many thanks

John Ziegler

A/Prof John B. Ziegler
School of Women's & Children's Health, UNSW
c/o Department of Immunology and Infectious Diseases
Sydney Children's Hospital
High St, RANDWICK NSW 2031
Australia
Phone: (02) 93821515;  Fax: +  61 + 2 + 93821580
Email: j.ziegler at unsw.edu.au

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