ECE2023 Eposter Presentations Adrenal and Cardiovascular Endocrinology (124 abstracts)
The VON Hippel-Lindau Disease, report of two cases and literature review
Benabdelatif Katia 1 , Aicha Lachkhem 2 , Khaldi Hassiba 2 , Bensalah Meriem 3 & Ould Kablia Samia 2
1Central Military Hospital, Endocrinology, Algeria, Endocrinology, Algiers, Algeria; 2Central Military Hospital, Endocrinology, Algeria, Endocrinology, Algiers, Algeria; 3Central Military Hospital, Endocrinology, Algeria, Endocrinology, Alger, Algeria
Background: Von Hippel–Lindau (VHL) is a rare, autosomal dominant syndrome characterized by the development of highly vascularized tumors in multiple organs. VHL affects approximately 1 in 35,000 live births. Tumors associated with VHL include hemangioblastom of the retina and central nervous system, pheochromocytomas, endolymphatic sac tumors of the middle ear, and epididymal or round ligament cysts. In 80% of patients, VHL disease is familial caused by mutations in the VHL gene and in about 20% of cases results from de novo mutations. Penetrance is 90% by the age of 65 years, with the mean age at diagnosis being 26 years.
Case Report: We reported two cases of VHL disease reveled by different clinical presentation: pheochromocytoma and cerebellus hemangioblastoma, at different age 48 and 26 years old. Both had the complete spectrum of disease included cerebellus hemangioblastoma, retinal hemangioblastoma, pheochromocytoma, pancreas tumors and renal cell carcinoma.
Conclusion: The von Hippel-Lindau disease is a familial cancer predisposition syndrome. Regular follow-up, early detection and management of tumors reduce morbidity and mortality.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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