For many of us in the field, one of the very appealing aspects of pediatric hematology, oncology, and stem cell transplantation is the vast range of disease processes that we encounter. These disorders range from relatively benign abnormalities in blood counts or coagulation profiles, to nonmalignant yet significantly life-altering disorders of hematopoiesis or immune functioning, to hematologic or solid tumor malignancies with broad implications both for a particular child and his or her entire family. However, prior to the first visit for most patients to a pediatric hematologist/oncologist, there are examinations performed and evaluations analyzed by primary care providers or other subspecialists, and although presentations of hematologic or oncologic disease are in some cases quite overt, many times the initial symptoms are deceptively subtle.
The articles included in this issue of Pediatric Annals were selected to highlight a variety of hematologic, oncologic, and immunologic disorders, with a focus on how patients with these conditions might initially present.
Dr. Michele L. Nassin and coauthors present an illustration of a young patient with hemolytic anemia of unclear etiology, who was ultimately diagnosed with an uncommon erythrocyte disorder. Because of the patient’s need for frequent blood transfusions, the diagnosis was difficult to ascertain, but with careful collaboration between her primary care physician and her pediatric hematologist, a focused genetic analysis was performed and the underlying disorder finally identified. Drs. Elizabeth Sokol and Radhika Peddinti explore the causes of abdominal pain and abnormal vaginal bleeding. The discussion focuses on the importance of considering rarer causes of dysmenorrhea and/or menorrhagia in adolescent girls, as more typical causes are eliminated from a differential diagnosis. Dr. Warren Alperstein and colleagues explain that acute lymphoblastic leukemia in children can be indolent, underscoring the importance of careful follow-up by primary care physicians for nonspecific symptoms that evolve over time. Current risk stratification, treatment approaches, and outcomes are also reviewed.
Two articles in this issue describe immunologic disorders, and the role of hematopoietic stem cell transplantation as a curative treatment. In the first, Dr. Laura Sillers and coauthors consider the differential diagnosis and evaluation for neonates with thrombocytopenia. In a stepwise fashion, they discuss the differential diagnosis in ill versus well babies. In the end, this article emphasizes the importance of maintaining rare diseases on a differential diagnosis and the need to factor in new symptoms as they arise, as the patient discussed eventually developed a finding that directly led to the identification of the underlying condition. Finally, Dr. Carrie E. Diamond and colleagues discuss severe combined immunodeficiency (SCID) in the neonate. The authors provide a review of the various forms of SCID and the types of infections for which patients are at risk, but in particular discuss the methodology of the newborn screening program for SCID, including recommendations for follow-up testing when there is a positive result.
This issue would not be possible without the help of many authors. Besides those listed above, I am indebted to Drs. Gabrielle Lapping-Carr, Jill L. O. de Jong, Peddinti, and James LaBelle, who served as senior authors for these articles, providing oversight and expertise in each of their particular areas within our discipline. I must also thank Drs. John Cunningham (Comer Children’s Hospital, University of Chicago) and Joseph R. Hageman (Comer Children’s Hospital, University of Chicago), who provided me with the opportunity to work on this project. It has been a challenge and a pleasure. I do hope that you find these articles interesting, and the discussions thought-provoking and valuable.