Abstract
Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings, such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia, whereas antibody-mediated diseases such as autoimmune neutropenia are associated with a rather unremarkable bone marrow morphology. By contrast, pancytopenia is frequently associated with a hypocellular bone marrow, and the differential diagnosis includes acquired aplastic anemia, myelodysplastic syndrome, inherited bone marrow failure syndromes such as Fanconi anemia and dyskeratosis congenita, and a variety of immunological disorders including hemophagocytic lymphohistiocytosis. Thorough bone marrow analysis is of special importance for the diagnostic work-up of most patients. Cellularity, cellular composition, and dysplastic signs are the cornerstones of the differential diagnosis. Pancytopenia in the presence of a normo- or hypercellular marrow with dysplastic changes may indicate myelodysplastic syndrome. More challenging for the hematologist is the evaluation of the hypocellular bone marrow. Although aplastic anemia and hypocellular refractory cytopenia of childhood (RCC) can reliably be differentiated on a morphological level, the overlapping pathophysiology remains a significant challenge for the choice of the therapeutic strategy. Furthermore, inherited bone marrow failure syndromes are usually associated with the morphological picture of RCC, and the recognition of these entities is essential as they often present a multisystem disease requiring different diagnostic and therapeutic approaches. This paper gives an overview over the different disease entities presenting with (pan)cytopenia, their pathophysiology, characteristic bone marrow findings, and therapeutic approaches.
Highlights
All peripheral blood cells originate from hematopoietic stem cells (HSCs) that reside in fetal liver and fetal or adult BM
It is important to emphasize that inherited BM failure syndromes (IBMFS) as well as acquired BM failure can present in all age groups, and that in some cases an isolated cytopenia preceeds the development of pancytopenia
Isolated thrombocytopenia can initially be diagnosed as ITP, but additional anemia or neutropenia over time might indicate the presence of systemic autoimmune disorders such as systemic lupus erythematosus (SLE)
Summary
(Pan)cytopenia in childhood can be caused by a variety of underlying diseases, including hematological and non-hematological entities. Overlapping phenotypes and pathophysiologies pose a major diagnostic challenge. An accurate and rapid diagnosis is essential for adequate therapy planning, surveillance, and genetic counseling. Bone marrow (BM) analysis is of special importance for the diagnostic work-up of cytopenias affecting one or more lineages. We will describe the individual disorders, their underlying pathophysiology and clinical characteristics, as well as typical BM findings
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