302 4-month-old boy with refractory thrombocytopenia and Wiskott-Aldrich syndrome – case report

Abstract

years. The cause of a low absolute neutrophil count (ANC) was autoimmune neutropenia in 37 patients, 31 had chronic idiopathic neutropenia, 27 had infectious neutropenia, 3 had cyclic neutropenia, while 2 were diagnosed with alloimmune neonatal neutropenia. The mean value of ANC at presentation was 732/mm3, and the mean lowest ANC detected during disease course was 600/mm3. Among the 5 diagnostic subgroups, both values were the lowest in patients with cyclic neutropenia in which mean ANC at presentation was 420/mm3 and mean lowest ANC detected during disease course was 180/ mm3.Granulocyte colony-stimulating factor (GCS-F) was given to only 3 patients, whose mean ANC at presentation was 140/ mm3. Besides the laboratory finding of persistent severe neutropenia, all 3 patients were prone to recurrent infections. Twenty-three patients had additional cytopenia, out of which 4 had pancytopenia, 13 had anemia and 6 patients had thrombocytopenia. Among patients with additional cytopenia, 5 had positive anti-granulocyte antibodies (21.7%). The mean time to disease resolution was 10.2 months, being the longest in the cyclic neutropenia subgroup, while patients with infectious neutropenia mainly recovered after 21.3 days. The mean follow-up time was 1.6 years.According to data from our Department, neutropenia is most commonly diagnosed in pre-school children, boys being more frequently affected than girls. More than one third of patients have positive anti-granulocyte antibodies. However, the condition is usually benign, it resolves mainly spontaneously in less than a year, and patients generally do not require G-CSF.