[PAGID] neuro+lung granulomata CVID how long steroids?

[John Ziegler]

-

Dear Nacho
 
There are some features here of VODI (veno-occlusive disease with
immunodeficiency) caused by mutations in sp110. See
http://www.ncbi.nlm.nih.gov/pubmed/16648851,
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene
<http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vodi>
&part=vodi.  
 
VODI patients classically have age of onset less than 12 months, have
hypogammaglobulinaemia and are at risk of OIs including PCP, viruses,
Toxoplasma but have no striking abnormalities on B and T cell phenotyping.
Liver disease other the VOD has been seen in some children.  Neurological
features are common.  Granulomata have not been seen as a feature till now.
Although most patients have died, usually in early childhood, sone patient
have had a fluctuating course and is currently well on IVIG replacement.
One child here in Sydney has had an undiagnosed spinal cord demyelinating
process which appeared to improve on steroids.
 
What was the liver histology? Are the parents known to be related? Is there
any family history of deaths in infancy?
 
John Ziegler
Sydney

  _____  

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez
Sent: Wednesday, 28 October 2009 11:45 AM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] neuro+lung granulomata CVID how long steroids?


Dear all, I need help with this case: 4-1/2 year old Romarian girl. In Feb
'08 mesencephalic mass with hemiparesis + hypogammaglobulinemia with absent
response to vaccines and nearly absent switched memory B cells with elevated
CD21low cells. Oct´08 developed periportal hepatitis (biopsied) and
interstial lymphoid pneumonitis (Lung biopsy) and mediastinal biopsy
granulomata were observed. Since Feb´08 to oct´08 was treated with
antituberculous drugs for suspected TB (no mycobacteria isolated). The brain
mass has disappeared after steroid treatment and she has recovered
completely from her neurological disabilities (intense tremor and
hemiparesis) 
We have assumed the patient has the granulomatous subset of the CVID. 
Now the patient is ok. These worsenings have ocurred at the same time
steroids were tappered off. This is why she receives 0.25 mg/kg daily.
The Densitometry shows osteopenia. (Zscore -2.6 in L1) so she started with
Calcium and vitamin D.

So does anybody know how long should I treat this patient with steroids? the
dose? 

Many thanks,

Nacho Gonzalez. Immunodeficiencies Division. Hospital 12 octubre. Madrid.

-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20091028/133c675e/attachment.htm>