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Jugular Foramen Meningocele in a 37-Year-Old Saudi Woman with Neurofibromatosis Type I: A Clinical Case Report
Corresponding Author(s) : Fahad Alshehri
Saudi Journal of Medicine and Public Health,
Vol. 3 No. 1 (2026)
Abstract
A 37-year-old woman presented with a five-year history of progressively worsening hearing loss in the right ear accompanied by pulsatile tinnitus. She also reported recurrent headaches described as dull and aching, typically lasting several hours and mainly affecting the right side of the head. There was no history of head trauma or previous surgical procedures, and the symptoms appeared without any identifiable precipitating factor. The patient denied experiencing visual disturbances, vertigo, dizziness, ear pain, nausea, or recurrent upper respiratory tract infections. General physical and neurological examinations were unremarkable, and no abnormalities were detected on systemic evaluation. Ophthalmological and otorhinolaryngological assessments also revealed no significant findings. Routine laboratory investigations were within normal limits and did not contribute to the diagnosis. Imaging evaluation revealed skeletal abnormalities including spinal meningocele and sphenoid wing dysplasia, findings consistent with Neurofibromatosis type I (NF1). Based on these radiological features, NF1 was diagnosed in this patient, an autosomal dominant neurocutaneous disorder known to be associated with various skeletal and neurological manifestations.
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- 1. O'Donohue AK, Ginn SL, Burgio G, Berman Y, Dabscheck G, Schindeler A. The evolving landscape of NF gene therapy: Hurdles and opportunities. Mol Ther Nucleic Acids. 2025 Feb 3;36(1):102475. doi: 10.1016/j.omtn.2025.102475. PMID: 40034205; PMCID: PMC11872496.
- 2. Báez-Flores J, Rodríguez-Martín M, Lacal J. The therapeutic potential of neurofibromin signaling pathways and binding partners. Commun Biol. 2023 Apr 20;6(1):436. doi: 10.1038/s42003-023-04815-0. PMID: 37081086; PMCID: PMC10119308.
- 3. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. PMID: 34012067; PMCID: PMC8354850.
- 4. Ozarslan B, Russo T, Argenziano G, Santoro C, Piccolo V. Cutaneous Findings in Neurofibromatosis Type 1. Cancers (Basel). 2021 Jan 26;13(3):463. doi: 10.3390/cancers13030463. PMID: 33530415; PMCID: PMC7865571.
- 5. Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ. Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2013 Apr;11(4):410-6. doi: 10.3171/2013.1.PEDS12409. Epub 2013 Feb 15. PMID: 23414129.
- 6. Serindere M, Tasar M, Hamcan S, Bozlar U. Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient. Case Rep Radiol. 2017;2017:7047696. doi: 10.1155/2017/7047696. Epub 2017 Dec 24. PMID: 29435380; PMCID: PMC5757098.
- 7. Siddiqui A, Connor S, Gleeson M. Jugular foramen meningocoele in a patient with neurofibromatosis type 1. J Laryngol Otol. 2008 Feb;122(2):213-6. doi: 10.1017/S0022215107007244. Epub 2007 Apr 16. PMID: 17437652.
- 8. Liao M, Lee HL, Liu YL, Wong TT. Neurofibromatosis Type 1 : A General Review. J Korean Neurosurg Soc. 2025 Nov;68(6):644-651. doi: 10.3340/jkns.2025.0073. Epub 2025 May 20. PMID: 40393479; PMCID: PMC12582889.
- 9. Almuqbil MA, Ammari MA, Al Dhayyan NS, Kaithathara ST, Al Balwi M. Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience. Hered Cancer Clin Pract. 2025 Nov 26;23(1):27. doi: 10.1186/s13053-025-00325-8. PMID: 41299544; PMCID: PMC12659344.
- 10. Russo C, Russo C, Cascone D, Mazio F, Santoro C, Covelli EM, Cinalli G. Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications. Cancers (Basel). 2021 Apr 12;13(8):1831. doi: 10.3390/cancers13081831. PMID: 33921292; PMCID: PMC8070534.
- 11. Chen N, Li W, Min L, Huang Q, Bian J. Neurofibromatosis type 1 with huge intrathoracic meningoceles misdiagnosed as pleural effusion: A case report and literature review. J Cardiothorac Surg. 2024 May 30;19(1):303. doi: 10.1186/s13019-024-02819-3. PMID: 38816890; PMCID: PMC11138057.
- 12. David DJ, Proudman TW. Cephaloceles: classification, pathology, and management. World J Surg. 1989 Jul-Aug;13(4):349-57. doi: 10.1007/BF01660747. PMID: 2773494.
- 13. Constanzo F, Coelho Neto M, Nogueira GF, Ramina R. Microsurgical Anatomy of the Jugular Foramen Applied to Surgery of Glomus Jugulare via Craniocervical Approach. Front Surg. 2020 May 15;7:27. doi: 10.3389/fsurg.2020.00027. PMID: 32500078; PMCID: PMC7243180.
References
1. O'Donohue AK, Ginn SL, Burgio G, Berman Y, Dabscheck G, Schindeler A. The evolving landscape of NF gene therapy: Hurdles and opportunities. Mol Ther Nucleic Acids. 2025 Feb 3;36(1):102475. doi: 10.1016/j.omtn.2025.102475. PMID: 40034205; PMCID: PMC11872496.
2. Báez-Flores J, Rodríguez-Martín M, Lacal J. The therapeutic potential of neurofibromin signaling pathways and binding partners. Commun Biol. 2023 Apr 20;6(1):436. doi: 10.1038/s42003-023-04815-0. PMID: 37081086; PMCID: PMC10119308.
3. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. PMID: 34012067; PMCID: PMC8354850.
4. Ozarslan B, Russo T, Argenziano G, Santoro C, Piccolo V. Cutaneous Findings in Neurofibromatosis Type 1. Cancers (Basel). 2021 Jan 26;13(3):463. doi: 10.3390/cancers13030463. PMID: 33530415; PMCID: PMC7865571.
5. Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ. Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2013 Apr;11(4):410-6. doi: 10.3171/2013.1.PEDS12409. Epub 2013 Feb 15. PMID: 23414129.
6. Serindere M, Tasar M, Hamcan S, Bozlar U. Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient. Case Rep Radiol. 2017;2017:7047696. doi: 10.1155/2017/7047696. Epub 2017 Dec 24. PMID: 29435380; PMCID: PMC5757098.
7. Siddiqui A, Connor S, Gleeson M. Jugular foramen meningocoele in a patient with neurofibromatosis type 1. J Laryngol Otol. 2008 Feb;122(2):213-6. doi: 10.1017/S0022215107007244. Epub 2007 Apr 16. PMID: 17437652.
8. Liao M, Lee HL, Liu YL, Wong TT. Neurofibromatosis Type 1 : A General Review. J Korean Neurosurg Soc. 2025 Nov;68(6):644-651. doi: 10.3340/jkns.2025.0073. Epub 2025 May 20. PMID: 40393479; PMCID: PMC12582889.
9. Almuqbil MA, Ammari MA, Al Dhayyan NS, Kaithathara ST, Al Balwi M. Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience. Hered Cancer Clin Pract. 2025 Nov 26;23(1):27. doi: 10.1186/s13053-025-00325-8. PMID: 41299544; PMCID: PMC12659344.
10. Russo C, Russo C, Cascone D, Mazio F, Santoro C, Covelli EM, Cinalli G. Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications. Cancers (Basel). 2021 Apr 12;13(8):1831. doi: 10.3390/cancers13081831. PMID: 33921292; PMCID: PMC8070534.
11. Chen N, Li W, Min L, Huang Q, Bian J. Neurofibromatosis type 1 with huge intrathoracic meningoceles misdiagnosed as pleural effusion: A case report and literature review. J Cardiothorac Surg. 2024 May 30;19(1):303. doi: 10.1186/s13019-024-02819-3. PMID: 38816890; PMCID: PMC11138057.
12. David DJ, Proudman TW. Cephaloceles: classification, pathology, and management. World J Surg. 1989 Jul-Aug;13(4):349-57. doi: 10.1007/BF01660747. PMID: 2773494.
13. Constanzo F, Coelho Neto M, Nogueira GF, Ramina R. Microsurgical Anatomy of the Jugular Foramen Applied to Surgery of Glomus Jugulare via Craniocervical Approach. Front Surg. 2020 May 15;7:27. doi: 10.3389/fsurg.2020.00027. PMID: 32500078; PMCID: PMC7243180.