A case report on Phaeochromocytoma in a young girl; A great masquerader hidden among many clinical clues

Abstract

Introduction: Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that can be lethal if left undiagnosed. But the variability in the clinical presentation can make the diagnosis challenging even to the most experienced clinician. Case Description: We describe a case of a phaeochromocytoma in an 18-year-old girl who had had a multitude of non-specific symptoms over 3 years without apparent hypertension but with persistent tachycardia. Despite having had classic symptoms of PPGLs at times (episodic flushing, palpitations, and headaches), a phaeochromocytoma was not suspected as she was labeled with panic attacks due to her social circumstances at the time of presentation. A large adrenal mass was detected incidentally and further evaluation revealed elevated metanephrine levels. She underwent curative surgery successfully and remains symptoms free to date. She will be under lifelong surveillance for a recurrence as the possibility of an underlying genetic defect is high considering her young age. Conclusion: PPGLs can have a very diverse presentation, evading early detection. A high degree of suspicion is needed to diagnose during the early course of illnes.