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Successful stem cell transplantation in an infant with severe congenital neutropenia complicated by pretransplant inflammatory pseudotumor of the liver

Bone Marrow Transplantation volume 38, pages 641–643 (2006)Cite this article

Severe chronic neutropenia is characterized by a reduction over several months of absolute neutrophil counts. Bacterial infections, including deep tissue infections, sepsis and fever occur very frequently in these patients. Congenital, cyclic and idiopathic neutropenia are principal categories of severe chronic neutropenia. Among them, severe congenital neutropenia (SCN) was first described by Kostmann in 1956 in a large intermarried Swedish family as infantile agranulocytosis with autosomal recessive inheritance.1 It is now well known that SCN is genetically heterogeneous with most cases arising sporadically.2 Mutations in neutrophil elastase, ELA2, are present in the DNA extracted from the peripheral blood of 35–84% of SCN cases.2 The subset of SCN patients with ELA2 mutation present with more severe disease symptoms including lower neutrophil counts, requirement for higher doses of G-CSF to achieve a response and also a higher rate of neoplastic progression.2

Here, we report a case of a 3 month-old girl who was admitted to our hospital with a history of persisting fever and chronic otitis media, persisting after a 2 week course of antibiotic therapy. Upon admittance, physical examination showed fever, bilateral otitis media and hepatomegaly. A complete blood count showed a white cell count (WBC) of 8.4 × 109/l, hemoglobin level at 10.8 g/dl and a platelet count at 553 × 109/l. The differential WBC count showed 0 neutrophil, 6.3 × 109/l lymphocytes and 2.1 × 109/l monocytes. Analysis of liver enzyme activity showed elevated aspartate aminotransferase (64 U/l – normal range 11–35 U/l) and alanine aminotransferase (51 U/l – normal range 5–43 U/l). Bilirubin levels were however normal. C-reactive protein (CRP) levels were extremely elevated (320 mg/l – normal <4 mg/l). Blood and stool cultures as well as viral serologies (EBV, CMV, HIV, HCV, HBV) were negative. Intravenous antibiotic therapy led to apyrexy and a reduction to normal liver size after 18 days, but agranulocytosis remained unchanged.

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Acknowledgements

We thank James P Basilion (Case Center for Imaging Research, Case Western Reserve University, Cleveland, USA) for assistance in English.

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Authors and Affiliations

  1. Service d'Hémato-Oncologie Pédiatrique, CHU Hautepierre, Strasbourg, France

    N Cojean, N Entz-Werlé, A Babin & P Lutz

  2. Service de Médecine Nucléaire, CHU Hautepierre, Strasbourg, France

    C Blondet & A Constantinesco

  3. Département de Pathologie, CHU Hautepierre, Strasbourg, France

    L Marcellin

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  1. N Cojean
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Correspondence to N Cojean.

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Cojean, N., Blondet, C., Marcellin, L. et al. Successful stem cell transplantation in an infant with severe congenital neutropenia complicated by pretransplant inflammatory pseudotumor of the liver. Bone Marrow Transplant 38, 641–643 (2006). https://doi.org/10.1038/sj.bmt.1705498

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