A case of pancytopenia and hypercellular bone marrow: when family history can suggest the diagnosis

A 12-month-old male Italian infant was admitted to another hospital for a 4-month history of weight loss (2 kg lost in 4 months) and feeding difficulties. At physical examination the child appeared pale, hyporeactive, and hypotonic. Liver and spleen were enlarged. His weight was below the third percentile for age. A significant delay in the developmental milestones and communicative reactions for age was noted. His blood exams revealed severe normocytic anemia (Hb 3.8 g/dL, MCV 83.2 fL), moderate neutropenia (710/µL) and mild thrombocytopenia (plts 111 × 10³/µL). He received a packed red blood cell transfusion and was transferred to our onco-hematologic unit with a suspicion of lymphoproliferative disease. A blood sample taken after the red blood cell transfusion showed normal ferritin and iron values. The serum level of vitamin D was in the normal range, whereas lactic dehydrogenase plasma level was elevated (2500 U/L, normal value 120–300).

Repeating the exams a few days later, we...