[CIS-PAGID] case

[Michi]

Has Pearson's bone marrow pancreas syndrome been considered? Does she have vacuolated bone marrow precursors? Does she have pancreatic insufficiency?
Michael

Am 10.01.2012 um 22:50 schrieb "Heimall, Jennifer" <heimallj at email.chop.edu>:


> I would appreciate your thoughts on this difficult case:

>  

> My patient is 21 month old Caucasian female born to unrelated parents who has had transfusion dependant macrocytic anemia of unknown etiology since November 2010.  She was found to have a granuloma on bone marrow biopsy in spring 2011, cultures were negative.  She also has eczema and frequent loose stools with poor weight gain.  From an infectious standpoint she has has 1-2 episodes of otitis but is otherwise well. However she is an only child and cared for at home by her mother with limited exposures.

>  

> As part of the evaluation for a possible immunodeficiency, TLR functional assay was obtained and was remarkable for decreased responses to TLR 1-8 performed twice.  DHR was normal.  Flow: CD3 3221, CD4 2577, CD8 501, CD20 1512, CD16/56 243.  Total IgG 885, IgA 61 and IgM 61, IgE 96. Diptheria 2.59, Tetanus 0.28

> She had skewed X-inactivation on a sample performed by a research laboratory, but repeat x inactivation studies by a commercial lab showed random inactivation.

> Telomere length assessment has been normal in lymphocyte and granulocytes.  Cytogenetics microarrary revealed a normal female (1-22, X)x2

> Mutation analysis performed by a commercial lab of IKBKG showed a variant c. 1056-18 C>T that is reported to be undetermined significance but predicted to lead to an intronic mutation.

>  

> There is consideration for transplant due to the anemia due to her young age and iron overload issues.

>  

> Thanks for any thoughts regarding further evaluation/treatment…

> Jen

>  

>  

> Jennifer Heimall, MD

> The Children's Hospital of Philadelphia

> Allergy/Immunology Attending Physician

> 3550 Market Street

> 3rd Floor

> Philadelphia, PA 19104

> 

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