Isolated Myeloid Sarcoma and Intracardiac Thrombus Resulting in Superior Mediastinal Syndrome.

Superior mediastinal syndrome (SMS) is a relatively common emergency in the practice of Pediatric Oncology. It typically results from the compression of large airways and superior vena cava by a swiftly growing mass. T-lineage acute lymphoblastic leukemia or lymphoma, neuroblastoma, and germ cell tumor are the common etiologies of SMS in children. Occasionally, SMS can be an unexpected presentation of less common childhood cancers and a surprise for the diagnostic and treating teams. The present paper reports the diagnostic and therapeutic challenge of managing a 9-y-old boy with SMS resulting from mediastinal myeloid sarcoma. The presence of a sizeable intracardiac thrombus, in addition, contributed to the SMS. The initial pleural fluid cytology and image-guided fine-needle aspiration cytology of the mediastinal mass were nondiagnostic. A thoracotomy was subsequently performed to debulk the tumor for symptomatic relief and obtain tissue for diagnosis.

Disseminated drug-resistant tuberculosis and multiple autoimmune syndrome in a child with selective IgA deficiency-An uncustomary combination.

Polyautoimmunity or multiple autoimmune syndrome (MAIS) is increasingly being recognized in pediatric clinical practice, often in conjunction with systemic lupus erythematosus (SLE). Besides multi-organ autoimmunity, children with SLE are often at a higher risk of developing infections including tuberculosis. The tendency to develop infections and multiple autoimmune diseases in childhood SLE often occurs in the absence of monogenic primary immunodeficiency disease. Conversely, children with inborn errors of immunity, of which selective IgA deficiency (sIgAD) is the most common, may develop recurrent infections and autoimmune disorders including SLE. Herein, we report a child with MAIS (including SLE) and sIgAD who developed drug-resistant tuberculosis, which was managed successfully with second-line anti-tubercular drug therapy. To the best of our knowledge, this combination of rare findings has not been reported previously in the pediatric literature. Although a majority of patients with sIgAD are either asymptomatic or have mild infections/autoimmunity, the index child had a myriad of infectious illnesses and multi-organ autoimmunity. Our case highlights the prudence of thoroughly evaluating children with SLE for other autoimmune diseases and vice versa. Given the higher probability of inherited disorders, including early complement deficiencies and monogenic interferonopathies, in childhood SLE compared with adult SLE, it may be prudent to perform a basic immunological workup (for example, immunoglobulin levels, 50% hemolytic complement) in such patients. A more extensive immunological and genetic evaluation (including next-generation sequencing) may also be required in the presence of unusual clinical or laboratory features, a positive family history, or a complicated clinical course.