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CC BY 4.0 · Journal of Diabetes and Endocrine Practice
DOI: 10.1055/s-0045-1813710
Case Report

Peculiarities of Neurofibromatosis–Noonan Syndrome: Clinical, Radiological, and Histological Characteristics Illustrated

Authors

  • Oumeyma Trimeche 

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Ekram Hajji

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Ben Amor Bilel

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Ines Bayar

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Sana Abid

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Hela Marmouch

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Jamel Saad

    2   Radiology Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Hanene Sayedi

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Rim Hadhri

    3   Anatomopathological Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Abdelfateh Zakhama

    3   Anatomopathological Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

  • Ines Khochteli

    1   Endocrinology and Internal Medicine Department, Fattouma Bourguiba University Hospital, Monastir, Tunisia

Funding None.
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Abstract

Neurofibromatosis–Noonan syndrome (NFNS) is an exceptional disease combining two autosomal dominant conditions: neurofibromatosis type 1 (NF1) and Noonan syndrome. Herein, we report the case of a 37-year-old female patient with a history of Hashimoto thyroiditis who exhibited typical symptoms of pheochromocytoma, which was confirmed with hormonal assessment. On physical examination, she exhibited cutaneous features of NF1. She also had short stature and dysmorphic syndrome consistent with NS. Thus, the diagnosis of NFNS was retained. A cerebral magnetic resonance imaging was carried out, revealing a temporal cavernoma. This case is, to our knowledge, the first report of NFNS with cerebral cavernoma, adding new insight into the clinical spectrum of this rare syndrome. Definitely, gaps remain in our understanding of NFNS, and therefore, other studies are warranted.

Keywords

neurofibromatosis–Noonan syndrome - pheochromocytoma - autoimmune thyroiditis - autoimmune diseases - central nervous system cavernous hemangioma

Patient Consent Statement

The authors confirm that the patient provided written informed consent for publication.


Author Contribution

O.T. and R.H. contributed to the writing of the manuscript. E.H. was responsible for the conception of the study. B.B.A. and J.S. contributed to the study design. S.A. provided materials. S.H. was involved in data collection. H.M. performed the literature review. I.K. supervised the project. The data analysis was conducted by I.B. and A.Z.


Compliance with Ethical Principles

Formal ethical approval is not required for single cases and small case series.




Publication History

Article published online:
03 December 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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