[CIS-PAGID] Baby with pancytopenia, exocrine pancreatic dysfunction, congenital abnormalities and no B cells

[Jane Peake]

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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