Pheochromocytoma as the first manifestation of von Hippel-Lindau disease.

Détails

ID Serval
serval:BIB_A01A4BE53743
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Pheochromocytoma as the first manifestation of von Hippel-Lindau disease.
Périodique
Surgery
Auteur(s)
Richard S., Beigelman C., Duclos J.M., Fendler J.P., Plauchu H., Plouin P.F., Resche F., Schlumberger M., Vermesse B., Proye C.
ISSN
0039-6060 (Print)
ISSN-L
0039-6060
Statut éditorial
Publié
Date de publication
1994
Volume
116
Numéro
6
Pages
1076-1081
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Résumé
BACKGROUND: von Hippel-Lindau disease is an autosomal dominant disorder characterized by the development of hemangioblastomas in the cerebellum, spinal cord, and retina, renal cell carcinoma and cysts, pancreatic cysts, and pheochromocytoma. METHODS: We have studied a series of 36 French patients affected with von Hippel-Lindau disease pheochromocytoma. Thirty (83%) of them were diagnosed as having von Hippel-Lindau disease because the disease occurred in a familial von Hippel-Lindau disease setting; six (17%) were diagnosed as having von Hippel-Lindau disease because they displayed another characteristic manifestation of that disease. RESULTS: The mean age at pheochromocytoma diagnosis was 29 +/- 14 years (5 to 62 years). Bilateral tumors were documented in 15 (42%) cases, paraganglioma was associated with adrenal pheochromocytoma in four cases, and malignant pheochromocytoma occurred in three cases. Prevalence of pheochromocytoma revealing von Hippel-Lindau disease was 20 (53%) out of 36. In six cases pheochromocytoma was the only manifestation of the disease. CONCLUSIONS: In the interest of the patients themselves and of family members who are at risk, search for von Hippel-Lindau disease must be systematic in the presence of pheochromocytoma. Basic checkup may be completed with familial inquiry, ophthalmoscopy, cerebral magnetic resonance imaging, abdominal ultrasonography, and computed tomography-scan for detection of latent lesions. In the future, after characterization of von Hippel-Lindau disease gene mutations, molecular diagnosis is going to be possible in individual patients.
Mots-clé
Adolescent, Adrenal Gland Neoplasms/diagnosis, Adrenal Gland Neoplasms/etiology, Adult, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Pedigree, Pheochromocytoma/diagnosis, Pheochromocytoma/etiology, von Hippel-Lindau Disease/complications, von Hippel-Lindau Disease/genetics
Pubmed
Création de la notice
31/08/2011 13:46
Dernière modification de la notice
03/03/2018 20:04
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