Biochemically normal adrenal pheochromocytoma following extensive central necrosis in a child with von Hippel-Lindau (VHL) gene mutation. Issue 12 (22nd December 2021)

• Record Type: Journal Article
• Authors: Ng, Benjamin Wei-Liang; Wong, Jeanne Sze-Lyn; Toh, Teck-Hock
• Is Part Of: BMJ case reports. Volume 14:Issue 12(2021)
• Publication Date: 2021-12-22
• Subjects: adrenal disorders -- radiology; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2021-245154
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Pheochromocytomas are rare in children. The diagnosis is usually established from a raised urinary or plasma catecholamine or their metabolites. We present a girl aged 11 years who manifested with a hypertensive crisis secondary to an adrenal tumour but with unexpectedly normal urinary metanephrine and catecholamine results. She improved spontaneously following the crisis and underwent surgery later. The histopathological study confirmed a pheochromocytoma with large central necrosis. Her genetic screening reported a pathogenic von Hippel-Lindau gene mutation. Surveillance scan postsurgery detected no other tumours. Following the catecholamine crisis, an acute infarct occurred, resulting in extensive tumour necrosis and subsequent rapid remission of symptoms and paradoxically normal biochemical markers. Although not unheard of in adults, we believe this is the first reported case of an extensive spontaneous necrosis resulting in a biochemically normal pheochromocytoma in a child.