Priapism as an Unusual Symptom of T-cell Acute Lymphoblastic Leukemia in a Pediatric Case.

Acute lymphoblastic leukemia (ALL) in pediatric patients typically presents with recognizable symptoms such as fever, pallor, and bone pain. However, atypical manifestations can complicate the diagnostic landscape. We present a unique case of a seven-year-old male with T-cell ALL whose presenting symptom was priapism. This case underscores the need for heightened awareness among healthcare professionals regarding the diverse clinical presentations of leukemia, emphasizing the importance of a multidisciplinary team approach for comprehensive evaluation and management. Our seven-year-old patient presented with priapism. A comprehensive diagnostic workup, including complete blood counts and subsequent bone marrow examination, led to the diagnosis of T-cell ALL. Given the rare presentation, a multidisciplinary team consisting of pediatric oncologists/hematologists, urologists, and other relevant specialists collaborated to formulate a tailored treatment plan. The patient received an intensified chemotherapy regimen, resulting in the resolution of priapism and hematologic improvement. Priapism as an initial presentation of T-cell ALL in a pediatric patient is an exceptional occurrence, necessitating a specialized and collaborative approach to diagnosis and management. This case report highlights the importance of interdisciplinary coordination involving pediatric oncologists and urologists in addressing the unique challenges posed by atypical leukemia presentations. The rarity of this manifestation emphasizes the need for further research to elucidate the underlying mechanisms and establish optimal management strategies for similar cases.

Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.

Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinflammatory disorder known as deficiency of adenosine deaminase 2 (DADA2) has been recently noticed to present with variable hematologic abnormalities. We report 2 patients who presented with hematologic abnormalities in which 2 ADA2 gene mutations were detected. The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. (Ala247Glnfs*16) homozygous variant. The second case is a 10-year-old boy, known to have Hodgkin lymphoma and was under follow-up for 6 years; he presented with persistent neutropenia and was discovered to be homozygous for ADA2 c.1447_1451del, p. (Ser483Profs*5). In conclusion, we report two different novels ADA2 variants in two children; the first presented with PRCA and the second presented with persistent neutropenia. This report aims to raise the concerns regarding the use of genetic testing in different hematologic diseases with indefinite etiology, as it will lead to the best therapeutic strategies without the need for unnecessary interventions.