Phaeochromocytoma associated to Von Recklinghausen Neurofibromatosis type I: a rare clinical case
Keywords:
phaeochromocytoma, neurofibromatosis type 1Abstract
Phaeochromocytoma is a tumor derived from the chromaffin cells
located mainly in the adrenal gland medulla neural crest and also in the sympathetic ganglia (paraganglioma).
90% of cases are sporadic. However, in about 10% of cases,
phaeochromocytoma is a feature of neoplastic autosomal dominant syndromes, such as Von Hippel Lindau’s disease, Multiple
Endocrine Neoplasia type 2 (MEN 2) seldom associated to Von
Recklinghausen Neurofibromatosis type I – NF1 (3-5%).
The authors present the case of a 54 year-old male with a
personal and family background of Von Recklinghausen Neurofibromatosis type I in whom a right adrenal asymptomatic mass
was detected (“incidentaloma”). Further investigation disclosed
a phaeochromocytoma producing high levels of epinephrine and
nor-epinephrine. Despite this secretory pattern, normotension
was established by 24h ambulatory pressure measurement, as
well as an absence of family history of hypertension, both fairly uncommon.
Some pathogenic mechanisms involved in such tumoral
syndromes are debated along with their clinical manifestations,
stressing the need for a systematic oncological screening in NF1
patients and family members, even if asymptomatic.
Downloads
References
Reisch N, Peczkowska M, Januszewicz A, Neumann HPH. Pheochromocytoma: presentation, diagnosis and treatment. Journal of Hypertension 2006; 24: 2331-2339.
Guller U, Turek J, Eubanks S, Delong ER, Oertli D, Feldman J. Detecting Pheocromocytoma- Defining the most sensitive test. Annals of surgery 2006; 243: 102-107.
Guimarães J. Neoplasias Endócrinas múltiplas. Acta Médica Portuguesa 2007; 20: 65-72.
Landsberg L, Young JB. Pheochromocytoma. Harrison´s Principles of Internal Medicine 16th Edition. New York: The McGraw-Hill Companies.
: 2148-2152.
Walther MM, Herring J, Enquist E, Keiser HR, Linehan WM. Von Reckilghausen´s Disease and Pheochromocytomas. Journal of Urology 1999;
(5): 1582.
Martins CL, Paulo Monteiro J, Farias A, Fernandes R, José Fonseca M. Neurofibromatose tipo 1 em idade pediátrica, o que vigiar? Acta Médica Portuguesa 2007; 20: 393-400.
Young WF. The incidentally discovered adrenal mass. The New England Journal of Medicine 2007; 356: 601-610.
Carvalho R, Branquinho F, Ramos J, Carrasquinho J, Theias R, Calado J, Ferrito F, Carmona C, Dutschmann L. Feocromocitoma: a propósito de 3 casos clínicos. Revista da Sociedade Portuguesa de Medicina Interna 2009; 16 (1): 43-49.
Widimsky JR, Zelinka T, Widimsky J. Hipertensão ligeira em doentes com Feocromocitoma 2001, Rev Port Cardiol 2001; 20 (2): 117-118.
Porto J, Rodrigues B, Guimarães J, Devesa N, Diniz Vieira R, Alexandrino Borges M, Alves Moura J J. Feocromocitoma de apresentação crítica: a propósito de 2 casos clínicos. Revista da Sociedade Portuguesa de Medicina Interna 2008; 15 (1): 24-31.
Santos J, Paiva I, Carvalheiro M. Feocromocitoma: actualizações no diagnóstico e tratamento. Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo 2009 (01): 99-111.
Porto A, Borba M, Gomes J, Batista M. Aspectos clínicos, diagnóstico e manejo dos tumores que produzem catecolaminas: feocromocitomas e paragangliomas. Brasília Med 2008; 45 (3): 234-243
Additional Files
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2023 Medicina Interna
Open Access
