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Benign phaeochromocytoma presenting with recurrent spells and negative biochemical screening

Abstract

A woman in her 40s presented with spells of hypertension, warmth, flushing and bradycardia for more than 1 year. Despite normal plasma metanephrines of 0.48 nmol/L (reference range: <0.50 nmol/L) and normal 24-hour urine metanephrines of 199 µg/day (reference range: 52–341 µg/day), an abdominal CT scan was obtained which revealed a 1.7 × 1.4 cm right adrenal gland nodule. During her next spell, 24-hour urine metanephrines were elevated at 585 µg/day with total metanephrines of 1026 µg/day (reference range: 140–785 µg/day). Subsequent MRI demonstrated a 1.5 × 1.5 cm right adrenal gland lesion concerning for phaeochromocytoma. Right adrenal gland excision was performed and pathology confirmed a benign phaeochromocytoma. Follow-up genetic testing was negative. This case highlights the challenges of identifying phaeochromocytomas in the clinical setting. Early imaging may assist in the timely diagnosis and treatment of these tumours in patients presenting with recurrent spells and negative biochemical screening.

  • adrenal disorders
  • hypertension
  • pathology
  • arrhythmias

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