[CIS-PAGID] Baby with pancytopenia, exocrine pancreatic dysfunction, congenital abnormalities and no B cells
Jyonouchi, Soma C
JYONOUCHI at email.chop.edu
Tue Oct 11 13:49:23 EDT 2011
Low B cells, hypogammaglobulinemia, T cell lymphopenia, decreased in vitro T cell proliferation have all been previously reported for Schwachman Diamand (British Journal of Haematology, 2001, 114, 712±717). Cartilage hair hypoplasia is another consideration given the short limbs and marrow failure.
SJ
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Jane Peake
Sent: Monday, October 10, 2011 9:40 PM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Baby with pancytopenia, exocrine pancreatic dysfunction, congenital abnormalities and no B cells
I would appreciate it if anybody has any ideas about regarding an underlying diagnosis in this baby
4.5 month old boy, born at term, normal pregnancy and antenatal scans. BW 3.6kg
Non-consanguinous parents. 2 healthy brothers. No family history of immune deficiency
Multiple medical issues:
1. Pulmonary hypoplasia, oxygen dependent
2. Cleft palate
3. Pancytopaenia with hypoplastic marrow - (2 bone marrow aspirates) GCSF and transfusion (platelets, red cell) dependent
4. Skeletal dysplasia - short proximal limbs
5. Mild hepatic dysfunction with hepatomegaly
6. Exocrine pancreatic dysfunction
· Presumed diagnosis of Schwachman Diamond Syndrome
7. Also found to have absent B cells on lymphocyte subsets, despite normal IgG, IgA and IgM levels. Very occasional plasma cells seen within hypoplastic marrow on BMA.
Infection history:
· Bronchiolitis at 2/12, admitted for 2 days. No organism identified
· Rhinovirus/enterovirus at 3/12, requiring intubation in ICU for 6 days
· Candida line infection
· Central line infection - no organism identified
Other results:
* lymphocyte count between 2.0-3.0 x 109/L (4.00-12.00)
* IgG 8.7g/L, IgA 0.5g/L, IgM 0.6g/L
* Normal PHA
* Lymphocyte subsets (absolutes/percentages):
* CD3 2.17 x 109/L (3.5-5) 96%
* CD4+/CD3+ 1.59 x 109/L (2.8-3.9) 70%
* CD8+/CD3+ 0.59 x 109/L (0.35-2.5) 26%
* CD19 0.01 x 109/L (0.43-3.3) 0%
* CD56 & CDCD16 0.07 x 109/L (0.05-0.52) 3%
Issues:
* ? Schwachman Diamond syndrome + immune deficiency?? as cause of absent B cells
* ? unifying diagnosis for all symptoms
Thanks for any suggestions
Jane
Dr Jane Peake
Paediatric Immunologist and Allergist
Senior Lecturer
University of Queensland
level 3 Foundation Building
Royal Children's Hospital
Herston Rd, Herston QLD 4029
Tel (61 7) 33655333 or 36365059
Fax (61 7) 33655455
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