Pediatric Myelodysplastic Syndrome Clinical Presentation

Updated: Jun 03, 2022
  • Author: Meena Kadapakkam, MD; Chief Editor: Jennifer Reikes Willert, MD  more...
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Children with myelodysplastic syndrome (MDS) have a history consistent with bone marrow failure. Their history and presentation are similar to those of children with leukemia.

The interval between the onset of symptoms and diagnosis is 0-23 months, with a median of 2 months. Patients may be asymptomatic, and the condition may be discovered when a routine complete blood count is obtained.

Other symptoms include the following:

  • Fatigue
  • Systemic infection (bacterial or fungal)
  • Prolonged fever
  • Bruising, bleeding

Physical Examination

Children with myelodysplastic syndrome (MDS) have findings consistent with bone marrow failure. The presentation may resemble that of acute leukemia.

General appearances range from well to constitutional wasting. Pallor and fatigue due to anemia may be present. Bruising and petechiae may be noted from thrombocytopenia. Hepatosplenomegaly predominates in juvenile myelomonocytic leukemia (JMML). Lymphadenopathy is present in 40-76% of patients with JMML but is present in less than 10% of patients with adult-type MDS. About 30% of patients with JMML have a diffuse erythematous, maculopapular rash.