English 
Italian Un caso di falsa neutropenia
A case of fictitious neutropenia
AUTORI
Marinella Pinelli4,5, Laura Dotta4,5, Annarosa Soresina4,5, Alessandro Plebani4,5, Alessandra Beghin1, Arnalda Lanfranchi1,
Elena Soncini6,7, Fulvio Porta6,7, Raffaele Badolato4,5
1Laboratorio Analisi Chimico-cliniche, ASST Spedali Civili, Brescia
2Scuola di Specializzazione in Patologia Clinica e in Biochimica Clinica, Università di Brescia
3Scuola di Specializzazione in Biochimica Clinica, Università di Milano
4Unità Operativa di Pediatria, ASST Spedali Civili, Brescia
5Istituto di Medicina Molecolare “A. Nocivelli”, Università di Brescia
6Unità Operativa di Oncoematologia Pediatrica, ASST Spedali Civili, Brescia
7Centro Trapianto Midollo Osseo Pediatrico “Monica e Luca Folonari”, ASST Spedali Civili, Brescia
ABSTRACT
A case of fictitious neutropenia
A 2-month-old newborn was hospitalized for fever, persistent infections, failure to thrive. Complete differential blood count detected a severe neutropenia and monocytosis, associated to an anomalous scatterplot of the hematology analyzer. Blood film review showed that neutrophils had been misclassified as monocytes, due to hypogranulated cytoplasms and nuclear hyposegmentation. Re-analysis on a different hematology platform agreed with the manual differential count. These clinical-morphological features suggested a possible diagnosis of immune deficiency due to lack of neutrophil specific granules. Indeed, Sanger sequencing allowed the detection of a homozygous mutation in SMARCD2 gene, whose alterations very recently had been associated to a similar syndrome, encompassing both hematological and skeletal anomalies. This case shows that a proper interpretation of routine tests can successfully drive the choice of higher-level analysis and led to a prompt diagnosis of a very rare condition. The diagnosis paved the way to a precocious allogeneic hematopoietic stem-cell transplantation that successfully cured the condition of immune deficiency and the hematology abnormalities of the young patient.