Ectopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report
Rattachement africain : cz, us. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Thymic neuroendocrine tumor as a cause of Cushing syndrome is extremely rare in children. We report a case of a 10-year-old girl who presented with typical symptoms and signs of hypercortisolemia, including bone fractures, growth retardation, and kidney stones. The patient was managed with oral ketoconazole, during which she experienced adrenal insufficiency, possibly due to either cyclic adrenocorticotropic hormone (ACTH) secretion or concurrent COVID-19 infection. The patient underwent a diagnostic work-up which indicated the possibility of an ACTH-secreting pituitary neuroendocrine tumor. However, after a transsphenoidal surgery, the diagnosis was not confirmed on histopathological examination. Subsequent bilateral inferior petrosal sinus sampling showed strong indications of the presence of ectopic ACTH syndrome. Detailed rereading of functional imaging studies, including 18 F-FDG PET/MRI and 68 Ga DOTATOC PET/CT, ultimately identified a small lesion in the thymus. The patient underwent videothoracoscopic thymectomy that confirmed a neuroendocrine tumor with ACTH positivity on histopathological examination. This case presents some unique challenges related to the diagnosis, management, and treatment of thymic neuroendocrine tumor in a child. We can conclude that ketoconazole treatment was effective in managing hypercortisolemia in our patient. Further, a combination of functional imaging studies can be a useful tool in locating the source of ectopic ACTH secretion. Lastly, in cases of discrepancy in the results of stimulation tests, bilateral inferior petrosal sinus sampling is highly recommended to differentiate between Cushing disease and ectopic ACTH syndrome.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Ectopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report
- Date Crossref
- 13/11/2024
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Charles University pays non établi dans la noticeUniversité ou école supérieure
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Thomayer University Hospital Department of Pediatrics pays non établi dans la noticeÉtablissement de santé
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University Hospital Kralovske Vinohrady pays non établi dans la noticeÉtablissement de santé
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Military University Hospital Prague Department of Medicine pays non établi dans la noticeUniversité ou école supérieure
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Eunice Kennedy Shriver National Institute of Child Health and Human Development pays non établi dans la noticeStructure de recherche
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Third Faculty of Medicine Department of Children and Adolescents pays non établi dans la noticeUniversité ou école supérieure
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First Faculty of Medicine Third Department of Medicine pays non établi dans la noticeUniversité ou école supérieure
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Developmental Endocrinology pays non établi dans la noticeInstitution
Charles University, Department of Pediatrics — Thomayer University Hospital et University Hospital Kralovske Vinohrady, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.