Case Report: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes

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...

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Published in:Frontiers in endocrinology (Lausanne) 2022-04, Vol.13, p.857504
Main Authors: Main, Ailsa Maria, Benndorf, Götz, Feldt-Rasmussen, Ulla, Fugleholm, Kåre, Kistorp, Thomas, Loya, Anand C, Poulsgaard, Lars, Rasmussen, Åse Krogh, Rossing, Maria, Sølling, Christine, Klose, Marianne Christina
Format: Article
Language:English
Subjects:
Adult
alpha blockade
catecholamine
Endocrinology
Female
Humans
Labetalol
multidisciplinary approach
Mutation
neuroendochrine tumor
Normetanephrine
paraganglioglioma
Paraganglioma - genetics
Paraganglioma - surgery
PTEN Phosphohydrolase
SDHB gene
Skull Base
Succinate Dehydrogenase
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Summary: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 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 . Blood tests showed high amounts of normetanephrine (35.1-45.4 nmol/L, ref G, p.C189G) and (c.834C>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.
ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2022.857504