Location: Colorado Convention Center, Four Seasons Ballroom 1 & 2
Introduction: Neuroblastoma can present classically as an abdominal mass with a variety of neurogenic symptoms. However, in cases of metastasis presentation can vary significantly including musculoskeletal involvement indicating a need for increased awareness to prevent delayed diagnosis in the sports medicine clinic.
Case Description: Patient was a 5 year old male with history of autism and asthma presenting with bilateral hip pain. He was febrile for 3 weeks, excessive sweating for 2 weeks, cough with congestion for 1.5 weeks, and 10lbs of weight loss over the last 4 weeks. He was previously seen at another hospital during this illness for a bowel cleanout. No diagnostic workup was done for his symptoms due to RSV positive status. After discharge he developed a limp not responsive to ibuprofen. There was concern for avascular necrosis, transient synovitis, and septic arthritis so he was referred to the hospital. On admission, orthopedics recommended MRI for definitive diagnosis prior to operation for possible septic arthritis. Labs revealed elevated lactate dehydrogenase, uric acid, and HMV acid levels. Chest x-ray showed right pleural thickening, US confirmed bilateral hip effusion. MRI pelvis showed diffusely abnormal enhancement of bilateral femur marrow with abdominopelvic ascites. CT showed right suprarenal mass with mass effect on liver which was confirmed as neuroblastoma via mass biopsy by hematology. He was enrolled in a research trial for chemotherapeutic treatment of high-risk neuroblastoma which he is admitted for regularly.
Discussion: Neuroblastomas are neuroblastic tumors of children, with a median age at diagnosis of about 17 months. Younger diagnosis equals better prognosis which ranges from spontaneous regression to highly resistant disease. Typical presenting symptoms are abdominal mass, GI symptoms, or neurologic signs dependent on localized mass effect such as Horner's syndrome. Definitive diagnosis is mass biopsy with genetic testing. Staging is based on age, degree of metastasis, and genetic components. In this case the presenting symptom was hip pain which had persisted for multiple weeks with B symptoms despite multiple healthcare encounters delaying diagnosis. There was also concern that his autism could have caused bias resulting in delayed diagnosis, and RSV positivity possibly resulting in anchoring bias against other diagnoses. These may have affected prognosis due to the high-risk nature of this patient's tumor burden with delayed chemotherapy.
Conclusion: Neuroblastoma and other oncogenic pathologies should always be considered in cases of prolonged joint or bone pain due to severity of outcome. This case is an example of how careful history taking and keeping a broad differential can alter the prognosis by making timely diagnoses. This case highlights anchoring bias, possible implicit bias, and atypical presentation of oncologic source that presented in an outpatient setting.
