{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T09:01:03Z","timestamp":1792918863613,"version":"4.5.0"},"reference-count":31,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Head and neck paragangliomas (HNPGLs) are neuroendocrine tumors. They arise from the parasympathetic ganglia and can be either sporadic or due to hereditary syndromes (up to 40%). Most HNPGLs do not produce significant amounts of catecholamines. We report a case of a giant paraganglioma of the skull base with an unusually severe presentation secondary to excessive release of norepinephrine, with a good outcome considering the severity of disease. A 39-year-old Caucasian woman with no prior medical history was found unconscious and emaciated in her home. In the intensive care unit (ICU) the patient was treated for multi-organ failure with multiple complications and difficulties in stabilizing her blood pressure with values up to 246\/146 mmHg. She was hospitalized in the ICU for 72 days and on the 31<jats:sup>st<\/jats:sup> day clinical assessment revealed jugular foramen syndrome and paralysis of the right n. facialis. A brain MRI confirmed a right-sided tumor of the skull base of 93.553 cm<jats:sup>3<\/jats:sup>. Blood tests showed high amounts of normetanephrine (35.1-45.4 nmol\/L, ref &amp;lt;1.09 nmol\/L) and a tumor biopsy confirmed the diagnosis of a paraganglioma. Phenoxybenzamine and Labetalol were used in high doses ((Dibenyline<jats:sup>\u00ae<\/jats:sup>, 90 mg x 3 daily) and labetalol (Trandate<jats:sup>\u00ae<\/jats:sup>, 200 + 300 + 300 mg daily) to stabilize blood pressure. The patient underwent two tumor embolization procedures before total tumor resection on day 243. Normetanephrine and blood pressure normalized after surgery (0.77 nmol\/L, ref: &amp;lt; 1.09 nmol\/L). The damage to the cranial nerve was permanent. Our patient was comprehensively examined for germline predisposition to PPGLs, however we did not identify any causal aberrations. A somatic deletion and loss of heterozygosity (LOH) of the short arm (p) of chromosome 1 (including <jats:italic>SDHB<\/jats:italic>) and p of chromosome 11 was found. Analysis showed an <jats:italic>SDHB<\/jats:italic> (c.565T&amp;gt;G, p.C189G) and <jats:italic>PTEN<\/jats:italic> (c.834C&amp;gt;G, p.F278L) missense mutation in tumor DNA. The patient made a remarkable recovery except for neurological deficits after intensive multidisciplinary treatment and rehabilitation. This case demonstrates the necessity for an early tertiary center approach with a multidisciplinary expert team and highlights the efficacy of the correct treatment with alpha-blockade.<\/jats:p>","DOI":"10.3389\/fendo.2022.857504","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T12:51:54Z","timestamp":1649854314000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Case Report: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes"],"prefix":"10.3389","volume":"13","author":[{"given":"Ailsa 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