A rare adrenal encounter: Non-secretory pheochromocytoma in a child with SDHAF2 mutation
Year: 2025
Type: article
Study design: Case Report
Abstract: ABSTRACT Pheochromocytoma is a catecholamine-producing tumor that originates from the chromaffin cells of the adrenal medulla and is rare in children. The clinical manifestations are usually variable and nonspecific, and patients might rarely be asymptomatic. Diagnosis requires urinary or plasma fractionated metanephrine measurement and radiological studies. The preferred treatment is surgical resection of the tumor. We report a case of a 4-year-old boy presenting with right-sided lower abdomen pain and multiple episodes of vomiting for 2 months and found to have hypertension. All the routine investigations, along with 24 h urine metanephrines, normetanephrines, overnight dexamethasone suppression test, serum dehydroepiandrostenedione, and midnight serum cortisol, were found to be normal. Contrast-enhanced computed tomography abdomen with adrenal protocol revealed a well-defined heterogeneously enhancing soft tissue lesion measuring 47 × 36 mm arising from the right adrenal region with a baseline Hounsfield Unit of +29. The child was taken up for exploratory laparotomy with right-sided adrenalectomy. Histopathological examination and immunohistochemistry were suggestive of pheochromocytoma. Whole exome sequencing detected a heterozygous variant of uncertain significance in exon 4 of the SDHAF2 gene. This is the first report of non-secretory pheochromocytoma in a child with SDHAF2 mutation.
Source: IJEM Case Reports
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4411577879