{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T20:59:23Z","timestamp":1784581163957,"version":"3.55.0"},"reference-count":12,"publisher":"Bioscientifica","issue":"1","license":[{"start":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T00:00:00Z","timestamp":1781481600000},"content-version":"vor","delay-in-days":165,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant condition predisposing to tumors, including pheochromocytomas and paragangliomas. Reported penetrance is close to 100%, but clinical presentation is highly variable. We present a case of a 79-year-old woman with an atypical and late presentation of NF1 with bilateral pheochromocytomas. She presented with long-standing abdominal pain. Her medical history included takotsubo cardiomyopathy and two episodes of intraoperative cardiogenic shock, 12 and 19 years before. A CT-scan revealed a 61 mm mass in the left adrenal gland (spontaneous density of 39 HU (hounsfield units)) and a 12 mm mass in the right adrenal gland (43 HU). The MIBG (metaiodobenzylguanidine) scan demonstrated high uptake in the left adrenal gland lesion. Urinary fractionated metanephrines were elevated. She underwent a left adrenalectomy, and pathology findings revealed a composite pheochromocytoma\u2013ganglioneuroma. Genetic testing disclosed a pathogenic variant in the NF1 gene. After surgery, urinary fractionated metanephrines normalized but became elevated again one year later. She underwent a right adrenalectomy, and pathology confirmed a \u2018typical\u2019 pheochromocytoma. Other than bilateral pheochromocytoma, the patient had no other clinical manifestations of NF1, including caf\u00e9-au-lait macules or cutaneous neurofibromas. This case highlights the importance of offering genetic testing to all patients with pheochromocytoma, which may reveal cases of NF1 with subtler and atypical clinical presentation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-25-0056","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T11:16:11Z","timestamp":1771413371000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1"],"prefix":"10.1530","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3925-1750","authenticated-orcid":true,"given":"Helena","family":"Urbano Ferreira","sequence":"first","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lu\u00edsa","family":"Sacramento","sequence":"additional","affiliation":[{"name":"2"},{"name":"3"},{"name":"4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"1"},{"name":"2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabete","family":"Rios","sequence":"additional","affiliation":[{"name":"2"},{"name":"3"},{"name":"4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Queir\u00f3s","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Belo","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2026,2,18]]},"reference":[{"key":"2026070713552452900_bib1","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1056\/NEJMra1806651","article-title":"Pheochromocytoma and paraganglioma","volume":"381","author":"Neumann","year":"2019","journal-title":"N Engl J Med"},{"key":"2026070713552452900_bib2","doi-asserted-by":"crossref","first-page":"e1937","DOI":"10.1210\/clinem\/dgaa982","article-title":"Metastatic pheochromocytomas and abdominal paragangliomas","volume":"106","author":"Granberg","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070713552452900_bib3","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1210\/jc.2014-1498","article-title":"Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline","volume":"99","author":"Lenders","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"2026070713552452900_bib4","article-title":"Neurofibromatosis 1","volume-title":"GeneReviews\u00ae [Internet]","author":"Friedman","year":"1993\u20132025"},{"key":"2026070713552452900_bib5","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2022.101818","article-title":"ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1","volume":"56","author":"Carton","year":"2023","journal-title":"EClinicalMedicine"},{"key":"2026070713552452900_bib6","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation","volume":"23","author":"Legius","year":"2021","journal-title":"Genet Med"},{"key":"2026070713552452900_bib7","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1530\/EJE-16-0233","article-title":"Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1","volume":"175","author":"K\u00e9p\u00e9n\u00e9kian","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"2026070713552452900_bib8","doi-asserted-by":"crossref","first-page":"K1","DOI":"10.1530\/EJE-17-0714","article-title":"Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1","volume":"178","author":"Gieldon","year":"2018","journal-title":"Eur J Endocrinol"},{"key":"2026070713552452900_bib9","doi-asserted-by":"crossref","first-page":"546","DOI":"10.3389\/fendo.2019.00546","article-title":"Isolated pheochromocytoma in a 73-year-old man with no clinical manifestations of type 1 neurofibromatosis carrying an unsuspected deletion of the entire NF1 gene","volume":"10","author":"Parisien-La Salle","year":"2019","journal-title":"Front Endocrinol"},{"key":"2026070713552452900_bib10","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00428-023-03492-y","article-title":"Composite pheochromocytoma of the adrenal gland \u2013 a review of published cases","volume":"483","author":"Costa","year":"2023","journal-title":"Virchows Arch"},{"key":"2026070713552452900_bib11","article-title":"Impacts of NF1 gene mutations and genetic modifiers in 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Met1149, p. Arg1276, and p. Lys1423: genotype\u2013phenotype study in neurofibromatosis type 1","volume":"41","author":"Koczkowska","year":"2020","journal-title":"Hum Mutat"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2026\/1\/EDM-25-0056.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2026\/1\/EDM-25-0056.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0056\/504884\/edm-25-0056.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0056\/504884\/edm-25-0056.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:55:28Z","timestamp":1783446928000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article\/2026\/1\/EDM250056\/75427\/Bilateral-pheochromocytoma-as-a-late-presentation"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1530\/edm-25-0056","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,1]]},"article-number":"EDM250056"}}