Disclosure(s): No relevant financial relationship(s) to disclose.
First Author: Laura Molineros, MD Co-Author: Fabiana Diaz, MD – Pediatric Resident, Memorial Healthcare System - JoeDiMaggio Children Hospital Co-Author: Prashanth Shanmugham, MD – Pediatric Critical Care Physician, Memorial Healthcare System - JoeDiMaggio Children Hospital
Introduction: Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive type of soft tissue pediatric sarcoma with an annual incidence of 0.2 to 0.7 cases per million. Symptoms are nonspecific and include abdominal pain or distension, weight loss, changes in bowel habits, back pain and rarely, testicular involvement. They often have a poor prognosis due to aggressive pathophysiology and poor response to standard therapies.
Description: A 17-year-old male presented with a 2-day history of testicular pain, swelling and dysuria. Upon initial ED evaluation, patient was diagnosed with orchitis; he returned 2 weeks later with abdominal distension, fatigue, and shortness of breath. Vitals and physical exam were significant for tachycardia, hypertension and distended abdomen with positive fluid wave. CT abdomen and pelvis showed large volume ascites, ill-defined pelvic and hepatic masses and peritoneal carcinomatosis with retroperitoneal lymphadenopathy. He had clinical and laboratory findings consistent with tumor lysis syndrome (TLS) and acute kidney injury (AKI), initially treated with hyperhydration, rasburicase and allopurinol. Empiric adjuvant chemotherapy was initiated and later biopsy confirmed diagnosis of DSRCT. Throughout hospitalization, he had suspected abdominal compartment syndrome (ACS) secondary to rapid reaccumulating paraneoplastic ascites evidenced by worsening oliguric AKI and increased ventilatory requirements with need for non-invasive ventilation and multiple therapeutic paracenteses. After improvement of symptoms, he was discharged with close oncology follow up.
Discussion: DSRCT is rarely associated with testicular pain, swelling, or dysuria. However, such atypical presentations can lead to delays in diagnosis and treatment, potentially resulting in more complicated clinical course, as in our patient who developed TLS and ACS. The overall incidence of TLS in solid tumors, is estimated to be 0.04-0.05%, with only isolated case reports documented in literature. ACS has also been linked to DSRCT, typically occurring in patients with extensive intra-abdominal disease or rapid tumor progression. It is essential to consider malignancy as a differential diagnosis of testicular pain and ensure close follow-up for complete symptom resolution.
