Case Report: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in

Head and neck paraganglioma (HNPGL) SDHB gene alpha blockade catecholamine multidisciplinary approach neuroendochrine tumor paraganglioglioma rehabilitation

Journal

Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782

Informations de publication

Date de publication:
2022
Historique:
received: 18 01 2022
accepted: 18 03 2022
entrez: 2 5 2022
pubmed: 3 5 2022
medline: 4 5 2022
Statut: epublish

Résumé

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

Identifiants

pubmed: 35498434
doi: 10.3389/fendo.2022.857504
pmc: PMC9044027
doi:

Substances chimiques

Normetanephrine 0J45DE6B88
SDHB protein, human EC 1.3.5.1
Succinate Dehydrogenase EC 1.3.99.1
PTEN Phosphohydrolase EC 3.1.3.67
PTEN protein, human EC 3.1.3.67
Labetalol R5H8897N95

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

857504

Informations de copyright

Copyright © 2022 Main, Benndorf, Feldt-Rasmussen, Fugleholm, Kistorp, Loya, Poulsgaard, Rasmussen, Rossing, Sølling and Klose.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Ailsa Maria Main (AM)

Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Götz Benndorf (G)

Department of Radiology, Copenhagen University Hospital, Copenhagen, Denmark.
Department of Radiology, Baylor College of Medicine, Houston, TX, United States.

Ulla Feldt-Rasmussen (U)

Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Kåre Fugleholm (K)

Department of Neurosurgery, Copenhagen University Hospital, Copenhagen, Denmark.

Thomas Kistorp (T)

Department of Anaesthesiology, Copenhagen University, Copenhagen, Denmark.

Anand C Loya (AC)

Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark.

Lars Poulsgaard (L)

Department of Neurosurgery, Copenhagen University Hospital, Copenhagen, Denmark.

Åse Krogh Rasmussen (ÅK)

Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Maria Rossing (M)

Center for Genomic Medicine, Rigshospitalet, Copenhagen, Denmark.

Christine Sølling (C)

Department of Neuroanaesthesiology, Copenhagen University Hospital, Copenhagen, Denmark.

Marianne Christina Klose (MC)

Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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Classifications MeSH