Neck Swelling and Fever

  • Sowmya ShashidharaEmail author
  • H. Koushik
  • Sangita Trivedi


  • Clinical suspicion of bone marrow failure syndrome should be raised in any child presenting with fever, weight loss, organomegaly with neutropenia and peripheral blood pancytopenia

  • A cellular bone marrow with dysplastic cells and peripheral blood dysgranulopoiesis in the above clinical setting is suggestive of myelodysplastic syndrome (MDS)

  • GATA2 deficiency results from a genetic aberration found in congenital types of myelodysplastic syndrome

  • Acquired myelodysplastic syndrome is associated with previous chemotherapy with cyclophosphamide and etoposide which leads to activation of proto-oncogenes

  • Hematopoietic stem cell transplantation is the definitive treatment for MDS

  • Bone marrow blast count and thrombocytopenia are the factors associated with outcome in childhood MDS


GATA2 deficiency Myelodysplastic syndrome Hematopoietic stem cell transplantation 


  1. 1.
    Wu J, Cheng YF, Zhang LP, Liu GL, Lu AD, Jia YP, Wang B. [Clinical features and etiological spectrum in children with pancytopenia]. Zhongguo dang dai er ke za zhi = Chin J Contem Pediatr. 2011;13(9):718–21.Google Scholar
  2. 2.
    Jason N, Berman ATL. Pediatric myeloid leukemia, myelodysplasia, and myeloproliferative disease. In: Orkin SH, editor. Nathan and Oski’s hematology and oncology of infancy and childhood. Philadelphia, PA: Elsevier; 2015. p. 1555–613.Google Scholar
  3. 3.
    Mendek-Czajkowska E, Slomkowski M, Zdebska E, Mokras U, Sikorska A, Maryniak R, Gorski T, Zych-Mordzinska J, Bielecka B. Hemoglobin F in primary myelofibrosis and in myelodysplasia. Clin Lab Haematol. 2003;25(5):289–92.CrossRefGoogle Scholar
  4. 4.
    Side LE, Curtiss NP, Teel K, Kratz C, Wang PW, Larson RA, Le Beau MM, Shannon KM. RAS, FLT3, and TP53 mutations in therapy-related myeloid malignancies with abnormalities of chromosomes 5 and 7. Genes Chromosomes Cancer. 2004;39(3):217–23.CrossRefGoogle Scholar
  5. 5.
    Takahashi K, Patel K, Bueso-Ramos C, Zhang J, Gumbs C, Jabbour E, Kadia T, Andreff M, Konopleva M, DiNardo C, Daver N, Cortes J, Estrov Z, Futreal A, Kantarjian H, Garcia-Manero G. Clinical implications of TP53 mutations in myelodysplastic syndromes treated with hypomethylating agents. Oncotarget. 2016;7(12):14172–87.CrossRefGoogle Scholar
  6. 6.
    Lindsley RC, Ebert BL. Molecular pathophysiology of myelodysplastic syndromes. Annu Rev Pathol. 2013;8:21–47.CrossRefGoogle Scholar
  7. 7.
    Hsu AP, McReynolds LJ, Holland SM. GATA2 deficiency. Curr Opin Allergy Clin Immunol. 2015;15(1):104–9.CrossRefGoogle Scholar
  8. 8.
    Strahm B, Nollke P, Zecca M, Korthof ET, Bierings M, Furlan I, Sedlacek P, Chybicka A, Schmugge M, Bordon V, Peters C, O'Marcaigh A, de Heredia CD, Bergstraesser E, Moerloose BD, van den Heuvel-Eibrink MM, Stary J, Trebo M, Wojcik D, Niemeyer CM, Locatelli F. Hematopoietic stem cell transplantation for advanced myelodysplastic syndrome in children: results of the EWOG-MDS 98 study. Leukemia. 2011;25(3):455–62.CrossRefGoogle Scholar
  9. 9.
    Hasle H, Baumann I, Bergstrasser E, Fenu S, Fischer A, Kardos G, Kerndrup G, Locatelli F, Rogge T, Schultz KR, Stary J, Trebo M, van den Heuvel-Eibrink MM, Harbott J, Nollke P, Niemeyer CM. The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). Leukemia. 2004;18(12):2008–14.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Sowmya Shashidhara
    • 1
    • 2
    Email author
  • H. Koushik
    • 1
  • Sangita Trivedi
    • 3
  1. 1.Department of PediatricsKasturba Medical College, Manipal UniversityManipalIndia
  2. 2.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA)Universal Scientific Education and Research Network (USERN)ManipalIndia
  3. 3.Department of PediatricsGovernment Medical College, Surat, Veer Narmad South Gujarat UniversitySuratIndia

Personalised recommendations