Ovidiu Mitu Dan Tesloianu Ionut Tudorancea Nicolae Danila Antoniu Octavian Petriş

Abstract

Neurofibromatosis type 1 (also known as von Recklinghausens disease) is a genetic disorder characterized by neurofibromas, skin pigmentation, eye and bone abnormalities. It is associated with pheochromocytoma in 1 to 5% of cases which determines symptoms related to catecholamine excessive secretion. We present the case of a 54-year-old man that was admitted to the cardiology clinic due to acute onset of tachyarrhythmia (atrial flutter) and high blood pressure. Neurofibromatosis type 1 was diagnosed by clinical examination while laboratory exams, 24-hour continuous blood pressure monitoring and imaging exams raised the probability of pheochromocytoma. After proper pharmacological stabilization, the patient underwent surgery and the 110/110 mm left adrenal mass was removed via abdominal laparotomy. The patient evolution was favorable and regular follow-up is scheduled. In conclusion, even though asymptomatic screening for pheochromocytoma is not recommended, this pathology should be suspected in all patients with neurofibromatosis especially if they present acute onset of cardiovascular signs.

##plugins.themes.bootstrap3.article.details##

Keywords

neurofibromatosis type 1, von Recklinghausens disease, pheochromocytoma, cardio-vascular, arterial hypertension

References
1. Pacak K, Linehan WM, Eisenhofer G, Walther MM, Goldstein DS. Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma. Ann Intern Med 2001; 134(4):315-329.
2. Rocchietti March M. Type 1 neurofibromatosis and pheochromocytoma: Focus on hypertension. J Neurosci Rural Pract 2012; 3(1):107-108.
3. Zografos GN, Vasiliadis GK, Zagouri F, et al. Pheochromocytoma associated with neurofibromatosis type 1: concepts and current trends. World J Surg Oncol 2010; 8:14.
4. Ozcinar B, Aksakal N, Agcaoglu O, et al. Multiple gastrointestinal stromal tumors and pheochromocytoma in a patient with von Recklinghausen's disease. Int J Surg Case Rep 2013; 4(2):216-218.
5. Lungu B, Baican S, Badarau Z, Lungu Z. Neurofibromatosis Type 1 (von Recklinghausen's disease) in Pregnancy: cesarean delivery outcomes – case report. Arch Clin Cases 2014; 1(2):62-66.
6. Bausch B, Borozdin W, Mautner VF, et al. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 2007; 92(7):2784-2792.
7. Zinnamosca L, Petramala L, Cotesta D, et al. Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Arch Dermatol Res 2011; 303(5):317-325.
8. Ferner RE, Huson SM, Thomas N. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44(2):81-88.
9. Lew JI, Jacome FJ, Solorzano CC. Neurofibromatosis-associated pheochromocytoma. J Am Coll Surg 2006; 202(3):550-551.
10. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007; 6(4):340-351.
11. Brannan CI, Perkins AS, Vogel KS, et al. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994; 8(9):1019-1029.
12. Walther MM, Herring J, Enquist E, Keiser HR, Linehan WM. von Recklinghausen's disease and pheochromocytomas. J Urol 1999; 162(5):1582-1586.
13. Shinall MC, Solórzano CC. Pheochromocytoma in Neurofibromatosis Type 1: When Should it Be Suspected? Endocr Pract 2014; 20(8):792-796.
14. Kiernan CM, Du L, Chen X, et al. Predictors of hemodynamic instability during surgery for pheochromocytoma. Ann Surg Oncol 2014; 21(12):3865-3871.
15. Ollero García-Agulló D, Iriarte Beroiz A, Rojo Alvaro J, Munárriz P, Forga Llenas L. Familial pheochromocytoma associated to neurofibromatosis type 1. Endocrinol Nutr 2013; 60(7):421-422.
16. Satendra M, de Jesus C, Bordalo e Sá AL, et al. Reversible catecholamine-induced cardiomyopathy due to pheochromocytoma: case report. Rev Port Cardiol 2014; 33(3):177.e1-6.
How to Cite
Mitu, O., Tesloianu, D., Tudorancea, I., Danila, N., & Petriş, A. O. (2014). Cardiovascular complications induced by pheochromocytoma associated with neurofibromatosis type 1 (von Recklinghausens disease) – case report and review of literature. Archive of Clinical Cases, 1(3), Arch Clin Cases 2014; 1(3):102-107. https://doi.org/10.22551/2014.04.0103.10022
Section
Case Reports

How to Cite

Mitu, O., Tesloianu, D., Tudorancea, I., Danila, N., & Petriş, A. O. (2014). Cardiovascular complications induced by pheochromocytoma associated with neurofibromatosis type 1 (von Recklinghausens disease) – case report and review of literature. Archive of Clinical Cases, 1(3), Arch Clin Cases 2014; 1(3):102-107. https://doi.org/10.22551/2014.04.0103.10022