Ectopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report
Jazyk angličtina Země Velká Británie, Anglie Médium electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
39538188
PubMed Central
PMC11558849
DOI
10.1186/s12902-024-01756-5
PII: 10.1186/s12902-024-01756-5
Knihovny.cz E-zdroje
- Klíčová slova
- 18F-FDG PET/MRI, 68Ga-DOTATOC PET/CT, Ectopic Cushing syndrome, Ketoconazole, Thymic neuroendocrine tumor,
- MeSH
- Cushingův syndrom etiologie diagnóza chirurgie MeSH
- dítě MeSH
- ektopický ACTH syndrom * diagnóza chirurgie MeSH
- ketokonazol terapeutické užití MeSH
- lidé MeSH
- nádory brzlíku * komplikace diagnóza chirurgie patologie MeSH
- neuroendokrinní nádory * komplikace diagnóza chirurgie patologie MeSH
- thymektomie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- ketokonazol MeSH
BACKGROUND: Thymic neuroendocrine tumor as a cause of Cushing syndrome is extremely rare in children. CASE PRESENTATION: 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 18F-FDG PET/MRI and 68Ga 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. CONCLUSION: 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.
3rd Department of Medicine 1st Faculty of Medicine Charles University Prague Czech Republic
Department of Medicine Military University Hospital Prague Czech Republic
Department of Pediatrics Thomayer University Hospital Prague Czech Republic
Zobrazit více v PubMed
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