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Endocrine Abstracts (2019) 63 P660 | DOI: 10.1530/endoabs.63.P660

ECE2019 Poster Presentations Interdisciplinary Endocrinology 1 (46 abstracts)

Neurofibromatosis type 2 revealed by hypertension in a young woman: is there a link?

Héla Marmouch , Haythem Jenzri , Houssem Mrabet , Hamza Fekih & Ines Khochtali


Internal Medicine-Endocrinology Department- University Hospital-Monastir-TUNISIA, Monastir, Tunisia.


Introduction: Neurofibromatosis 2 (NF2) is a rare genetic disease characterized by the development of multiple schwannomas and meningiomas. It has a very variable phenotype but the most common type of tumor to develop is the vestibular schwannoma. We report clinical case of NF2 which has been revealed by hypertension.

Observation: We report the case of a 25-year-old woman referred to our institution for evaluation of hypertension. She had no family history of neuroendocrine tumors or known phakomtosis. The clinical history included a past of chronic headache and tinnitus for 2 years. On a general examination, she had no deformity or abnormal pigmentation. On neurological examination, she had normal higher psychic function with left sixth nerve palsy and a mild cerebellar signs. She had no clinical manifestations of adrenal medullary or cortical hyperfunction. Biochemical, endocrine, and renal investigation of the hypertension was negative. Abdominal CT showed a bilateral Dumbbell-shaped tumor located around the L3 and L4 segments. Cranial and whole spine magnetic resonance imaging showed bilateral vestibular schwannomas, multiple meningiomas, and spinal neurofibromas. Based on clinical and imaging findings the diagnostic of neurofibromatosis type 2 was made. Genetic confirmation is underway.

Discussion: The clinical presentation of NF2 varies and approximately half of the patients seen are the first case in their families. Our patient is also the first case in her family. Few studies showed the increased incidence of hypertension in NF2 compared to an unaffected population.

Conclusion: The association of neurofibromatosis type 2 and hypertension is rare. The ethio-pathogenic mechanisms of this association have not yet been elucidated. There may be an underlying renal vascular disease in NF2 patients, similar to NF1, and this requires further research.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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