Non-Functioning Pheochromocytoma in a Patient With Von Hippel Lindau Syndrome (VHL): Case Report

Background: We report the case of a patient with VHL Syndrome with an adrenal lesion compatible with non-functioning pheochromocytoma and it’s diagnostic management. Case Report: JMN, female, 32 years old, referred for screening for VHL syndrome, after diagnosis in a sister, who has clear cell renal...

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Bibliographic Details
Published in:Journal of the Endocrine Society 2021-05, Vol.5 (Supplement_1), p.A1002-A1002
Main Authors: Ricardo, Gustavo Piech, Scalissi, Nilza, Bueno, Cristina Bellotti Formiga, Scalco, Renata Da Cunha, Lima, Jose Viana
Format: Article
Language:English
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Summary:Background: We report the case of a patient with VHL Syndrome with an adrenal lesion compatible with non-functioning pheochromocytoma and it’s diagnostic management. Case Report: JMN, female, 32 years old, referred for screening for VHL syndrome, after diagnosis in a sister, who has clear cell renal carcinoma (ccRCC), cerebellar hemangioblastoma and genetic analysis, by next generation sequencing (NGS), which identified the allelic variant germline pathogenic c. 256C> T in heterozygosis in exon 1 of the VHL gene. The patient is asymptomatic and her physical examination is normal. Optic fundus examination with lesion suggestive of right hemangioblastoma. Family history: mother who died at 59 with a diagnosis of ccRCC, without genetic investigation. Maternal aunt diagnosed with VHL and involvement of the cerebellum, kidney and pancreas. Two brothers with genetic and clinical diagnosis of VHL syndrome, presenting pheochromocytoma and renal carcinoma. Laboratory tests: plasma metanephrine: 0.3 nmol/L (RV
ISSN:2472-1972
2472-1972
DOI:10.1210/jendso/bvab048.2050