P3.N268: Paraganglioma in a Pediatric Patient: Case Report

Introduction: Paragangliomas are rare neuroendocrine tumors that typically present in mid-life. They are often grouped with pheochromocytomas, because both form from chromaffin cells. The location in the body is the distinguishing factor. Pheochromocytomas are intramedullary, while paragangliomas are extramedullary. Both tumors have the potential to secrete catecholamines, making them “functional” tumors. The classical clinical triad presentation for these functional tumors include headache, sweating and tachycardia. However, a patient can present with a just one symptom in the triad. The majority of paragangliomas are sporadic, but they can be associated with inherited genetic syndromes. Paragangliomas can be benign or malignant.

Case Description: A 17 year old female patient presented with hypertension, tachycardia, excessive sweating, hair loss, irregular periods and family's concern for thyroid disease. Historical medical records indicated a 2 year history of excessive sweating that was thought to be related to puberty. Her physical exam was unremarkable with the exception of diaphoresis and tachycardia. She later admitted to non-specific headaches. Positive family history of thyroid disease. Initial work up included thyroid studies, iron studies, hormone levels and 24hr urine catecholamines. All studies returned as unremarkable with the exception of urine catecholamines. Both urine norepinephrine and urine metanephrine were in excess of 20x upper limit of normal. Plasma free metanephrine returned elevated >20x upper limit of normal. Renal function and EKG were within normal limits. She was referred to pediatric endocrinology group who ordered abdominal MRI identifying a left sided retroperitoneal soft tissue mass approximately 6cm in size consistent with a functional paraganglioma. PET scan was done showing no additional sites of disease. Patient was started on a doxazosin protocol to reduce blood pressure and stabilize for surgery. She had successful laparoscopic resection of the tumor and is currently recovering. She was referred to genetics, and workup is pending at this time. She will require life-long follow up to monitor for reoccurrence.

Discussion: Paragangliomas and pheochromocytomas are rare neuroendocrine tumors, especially in a pediatric population. A high index of suspicion is important for pediatric patients presenting with the classic triad of headaches, sweating and tachycardia. However, clinicians should also consider the differential diagnosis in patients with one or more symptoms, especially if more common diagnosis have been ruled out. Prompt diagnosis and intervention are essential to prevent complications.

Conclusion: Paragangliomas and pheochromocytomas are rare in the pediatric population. Increased education and awareness for the primary care clinician about these tumors and their clinical presentation can provide expedited treatment for pediatric patients rendering better outcomes for patients and their families.