Trombocitopenia immune: quando le immunoglobuline non funzionano

A 9-year-old boy was initially evaluated for macrocytic anaemia, neutrophilic leukocytosis and thrombocytopenia, with spontaneous ecchymoses but with no significant medical history. After ten months of follow-up, hematologic worsening occurred alongside cough, fever and epistaxis. Immune thrombocytopenia (ITP) with presumed bacterial pneumonia was suspected and treated with intravenous immunoglobulins and antibiotics without improvement. Further diagnostic work-up with bone marrow aspiration and biopsy confirmed paediatric myelodysplastic syndrome (MDS) with monosomy 7 and a GATA2 gene variant. This case highlights the challenge of distinguishing ITP from MDS in paediatric patients and emphasises the need for thorough investigations to avoid misdiagnosis and treatment delays.