International Journal of Otorhinolaryngology and Head and Neck Surgery

Almulla LB et al. Int J Otorhinolaryngol Head Neck Surg. 2025 Jun;11(3):256-263

http://www.ijorl.com

pISSN 2454-5929 | eISSN 2454-5937

Case Report

DOI: https://dx.doi.org/10.18203/issn.2454-5929.ijohns20251507

Symptomatic cerebrospinal fluid leak secondary to sphenoidal Ecchordosis physaliphora: case report and literature review

Layan B. Almulla1, Maria R. Alabdulaal2, Sarah M. AlQahtani3, Ali A. Almomen3*, Sultan Alsaiari4, Mazen Alotaibi4

1College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia

2Department of Otolaryngology-Head and Neck Surgery, King Faisal General Hospital, Hofuf, Saudi Arabia

3Department of Otolaryngology-Head and Neck Surgery, King Fahad Specialist Hospital, Dammam, Saudi Arabia

4Department of Neurosurgery, King Fahad Specialist Hospital, Dammam, Saudi Arabia

Received: 04 February 2025

Accepted: 08 May 2025

*Correspondence:

Dr. Ali A. Almomen,

E-mail: alihalmomen@yahoo.com

Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

ABSTRACT

Ecchordosis physaliphora (EP) is a rare, benign, and hamartomatous tumor that is driven from ectopic notochordal remnants. It has a usual asymptomatic presentation and is often incidentally detected in about 2% of autopsies. A 50-year-old female presented to rhinology clinic with clear nasal discharge for 6 weeks associated with frontal headache. Unremarkable neurological and ENT examination. Brain computed tomography (CT) scan demonstrated a focal bony defect at the posterior wall of sphenoid sinus with partial opacification of the sphenoid sinus showing air fluid level suspicious for cerebrospinal fluid (CSF) leakage with a small cyst. Further assessment with MRI of the brain showed signs of rhinorrhoea secondary to ecchordosis physaliphora. Patient was managed successfully with endoscopic trans-nasal skull base reconstruction. Upon follow-up at two years post-operatively, no evidence of recurrence was detected. EP is indistinguishable from chordoma histopathologically hence imaging plays a crucial role in diagnosis. EP appears as hyperintense in T2-weighted images and hypointense in T1-weighted images. Symptomatic EP cases are extremely rare and most of these cases are managed by resection via craniotomy. In addition, endoscopic endonasal trans-sphenoidal surgery (ETSS) provides a good approach. Imaging is crucial for the diagnosis of these lesions. Surgical treatment is considered the gold standard for symptomatic ecchordosis physaliphora. Endoscopic endonasal transnasal skull base reconstruction is effective for management, it is a minimally invasive approach for complete resection of the lesions with reduced hospitalization time and less postoperative complications.

Keywords: Chordoma, Clivus, Trans-sphenoidal, Endoscopic, Case report

INTRODUCTION

Cerebrospinal fluid (CSF) leaks can present various symptoms, and their etiology may include traumatic or non-traumatic causes. Ecchordosis physaliphora (EP) is a congenital, benign, and hamartomatous lesion derived from notochordal remnants at the posterior clivus.

Unlike chordomas which are often symptomatic due to brainstem or cranial nerve compression, patients with EP are usually asymptomatic. They are found in ~2% of autopsies.1 Herein, we report a case of a symptomatic CSF leak associated with EP in a 50-year-old female who presented to a tertiary hospital and treated successfully with endoscopic trans-nasal skull base reconstruction.

CASE REPORT

A 50-year-old female with a medical history of glucose-6-phosphate dehydrogenase (G6PD) deficiency presented to rhinology and skull base clinic with a history of intermittent clear nasal discharge primarily from the right nostril over the last six weeks associated with frontal headache. The nasal discharge occurred mainly while bending the head forwards. The patient denied any visual or neurological complaints. There was no significant medical or past surgical history.

Figure 1: CT head (A) Sagittal view (B) Coronal view showing: Focal bony defect at the posterior wall of sphenoid sinus with partial opacification of the sinus, showing air-fluid level suspicious for CSF leakage with bony erosions and small cyst.
Figure 1: CT head (A) Sagittal view (B) Coronal view showing: Focal bony defect at the posterior wall of sphenoid sinus with partial opacification of the sinus, showing air-fluid level suspicious for CSF leakage with bony erosions and small cyst.
Figure 2: MRI of brain (A) Coronal view (B) Axial view (C) Sagittal view showing: Focal bony defect at the posterior wall of the right sphenoid sinus with erosion and small cyst-like structure at the cranial aspect of the wall and intra sinus calcification at the site of the defect.
Figure 2: MRI of brain (A) Coronal view (B) Axial view (C) Sagittal view showing: Focal bony defect at the posterior wall of the right sphenoid sinus with erosion and small cyst-like structure at the cranial aspect of the wall and intra sinus calcification at the site of the defect.

Associated air-fluid level is noted at the related sinus with no restricted diffusion or abnormal post IV contrast enhancement. The appearance likely represents CSF rhinorrhoea secondary to EP.

ENT and neurological examination revealed no abnormalities. Imaging studies, including computed tomography (CT) and magnetic resonance imaging (MRI) were requested and showed a focal bony defect at the posterior wall of the right sphenoid sinus (Figure 1 & 2). The defect is associated with a cyst-like structure and intra-sinus calcification, that was consistent with rhinorrhoea and cerebrospinal fluid (CSF) leak secondary to EP.

The patient subsequently underwent endoscopic trans-nasal skull base reconstruction by a rhinologist and a neurosurgeon with a biopsy from the clival lesion (Figure 3).

An endoscopic endonasal transsphenoidal approach was employed, involving a bilateral sphenoidotomy. A cystic lesion was identified just behind the posterior wall of the sphenoid, and a biopsy was obtained from the lesion.

Figure 3: Endoscopic view of posterior wall of the sphenoid sinus after grafting and reconstruction.
Figure 3: Endoscopic view of posterior wall of the sphenoid sinus after grafting and reconstruction.
Figure 4: Endoscopic view of the surgical site 6 months post-operatively.
Figure 4: Endoscopic view of the surgical site 6 months post-operatively.

The defect was then closed using a multilayer technique that utilized septal bone followed by a naso-septal flap. Histopathology results from the lesion were inconclusive. However, based on imaging findings suggestive of EP, the decision was made for close follow-up with clinical and imaging monitoring.

Over a 2-year follow-up period with MRI and nasal endoscopic examination, there was no evidence of leak recurrence, the flap was intact in place, and the patient was free of symptoms (Figure 4).

Table 1: Summarized findings of case reports on CSF leak secondary to sphenoidal ecchordosis physaliphora.
Table reproduced from source PDF page 3
Table 2: Case reports on CSF leak secondary to sphenoidal ecchordosis physaliphora.
Table reproduced from source PDF page 3, part 1 of 4
Table reproduced from source PDF page 4, part 2 of 4
Table reproduced from source PDF page 5, part 3 of 4
Table reproduced from source PDF page 6, part 4 of 4

DISCUSSION

Ribbert defined EP in 1894 as a remnant of notochordal tissue that did not develop malignantly into a chordoma. EP is still categorized as a benign congenital disorder distinguished from chordoma by the absence of aggressive characteristics, despite the fact that they seem almost identical histologically. Although it is classified as a notochordal residual lesion, its unusual location and asymptomatic nature distinguishes it from other notochord-derived malignancies.2 It is commonly found in the clivus and sacrum. Most symptomatic EP lesions (77%) are located in the prepontine region, while a significant minority (17%) are observed in the posterior wall of the sphenoid sinus. Notably, the majority of cases situated in the posterior sphenoid sinus wall were females, accounting for 90% of these occurrences.3

Histologically, EP resembles chordoma and is composed of notochordal remains with physaliferous (bubbly) cells inside a myxoid stroma. It usually lacks mitotic activity or cellular atypia and shows no malignancy markers that are associated with chordoma. Both EP and chordoma arise from notochordal tissue; however, EP does not exhibit invasive growth.4 EP can present with various clinical symptoms, including headache, facial pain, cerebrospinal fluid (CSF) leak, and meningitis. The two largest systematic reviews included 47 and 60 cases of symptomatic EP, with headache and rhinorrhoea being the most common initial presenting symptoms,3,5 with spontaneous rhinorrhoea accounting for 35% of symptomatic EP cases.5 Meningitis due to CSF leakage has also been reported.6

Other less common symptoms include diplopia, abducens nerve palsy, and intracranial hypertension.7 In the literature there are only 24 reported cases of EP presenting as spontaneous CSF rhinorrhoea (Table 1).5,6,8-19 The majority of those patients were female (79%) with an average of 53 years. The most common location was the clivus, and almost half of them reported a history of meningitis (Table 1). It is important to note that EP can be asymptomatic and incidentally detected during imaging or autopsy.20

Accurate diagnosis and differentiation from other lesions, particularly chordomas, are crucial for appropriate management. Histopathological analysis might not distinguish between EP and other malignant lesions like clivus chordoma, given their shared embryonic origins, leading to nearly identical histopathological characteristics. Both conditions exhibit similar features, including the presence of physaliphorous cells when examined under electron microscopy, along with comparable immunohistochemical patterns.21 Neuroradiological studies play a crucial role in the diagnosis and differentiation of EP. On MRI, EP typically appears as a well-defined retroclival cystic lesion with hypointense signal on T1-weighted images and hyperintense signal on T2-weighted images. The lesion shows cerebrospinal fluid (CSF) signal on T2-FLAIR images and does not demonstrate abnormal enhancement. Importantly, EP can be distinguished from chordoma, its pathologic counterpart, based on imaging characteristics such as the absence of contrast enhancement or osseous destruction.22

Surgical resection is the preferred treatment for symptomatic EP. Various surgical approaches have been employed, including endoscopic endonasal transsphenoidal trans clival approach which has been reported as a safe and effective technique for resection and addressing CSF leaks.6,21 However, for asymptomatic lesions, a reasonable management approach involves periodic radiological monitoring, and operative intervention should be considered once symptoms manifest in the patient.21

CONCLUSION

This case describes a 50-year-old female with a spontaneous CSF rhinorrhoea as the initial presenting symptoms of EP. Imaging plays an important role in the diagnosis of these lesion. Moreover, endoscopic trans-nasal skull base reconstruction is an effective management of the CSF leak. However, close follow-up is necessary to monitor the patient's progress and determine the exact nature of the clivus bone lesion when histopathology is not diagnostic.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: Not required

REFERENCES

  1. 1. Mehnert F, Beschorner R, Küker W, Hahn U, Nägele T. Retroclival ecchordosis physaliphora: MR imaging and review of the literature. American J Neuroradiol. 2004;25(10):1851-5.
  2. 2. Macdonald LR, Cusimano MD, Deck JH, Gullane PJ, Dolan EJ. Cerebrospinal fluid fistula secondary to ecchordosis physaliphora. Neurosurg. 1990;26(3):515-9.
  3. 3. Gupta RK, Reddy TA, Gupta A, Samant R, Perez CA, Haque A. An ecchordosis physaliphora, a rare entity, involving the central nervous system: a systematic review of the literature. Neurol Int. 2023;15(4):1200-11.
  4. 4. Yamamoto T, Yano S, Hide T, Kuratsu JI. A case of ecchordosis physaliphora presenting with an abducens nerve palsy: a rare symptomatic case managed with endoscopic endonasal transsphenoidal surgery. Surg Neurol Int. 2013;4:13.
  5. 5. Ruiz MJ, Alsavaf MB, Fadel M, Salem EH, Mongkolkul K, Naksen P, et al. Spontaneous rhinorrhea: a possible concealing initial symptom of ecchordosis physaliphora. Illustrative case. J Neurosurg: Case Lessons. 2023;5(13):236.
  6. 6. Georgalas C, Terzakis D, Tsikna M, Alatzidou Z, de Santi S, Seccia V, et al. Ecchordosis physaliphora: a cautionary tale. The J Laryngol & Otol. 2020;134(1):46-51.
  7. 7. Sun R, Ajam Y, Campbell G, Masel T. A rare case of ecchordosis physaliphora presenting with headache, abducens nerve palsy, and intracranial hypertension. Cureus. 2020;12(6):3860.
  8. 8. Macdonald LR, Cusimano MD, Deck JH, Gullane PJ, Dolan EJ. Cerebrospinal fluid fistula secondary to ecchordosis physaliphora. Neurosurgery. 1990;26(3):515-9.
  9. 9. Alli A, Clark M, Mansell NJ. Cerebrospinal fluid rhinorrhea secondary to ecchordosis physaliphora. Skull Base. 2008;18(06):395-9.
  10. 10. Dias LA, Nakanishi M, Mangussi-Gomes J, Canuto M, Takano G, Oliveira CA. Successful endoscopic endonasal management of a transclival cerebrospinal fluid fistula secondary to ecchordosis physaliphora–an ectopic remnant of primitive notochord tissue in the clivus. Clin Neurol Neurosurg. 2014;117:116-9.
  11. 11. Bolzoni-Villaret A, Stefini R, Fontanella M, Bottazzoli M, Turri Zanoni M, Pistochini A, et al. Transnasal endoscopic resection of symptomatic ecchordosis physaliphora. Laryngoscope 2014;124(6):1325-8.
  12. 12. Ferguson C, Clarke DB, Sinha N, Shankar JJ. A case study of symptomatic retroclival ecchordosis physaliphora: CT and MR imaging. Canadian J Neurolog Sci. 2016;43(1):210-2.
  13. 13. Galloway L, Hayhurst C. Spontaneous cerebrospinal fluid rhinorrhoea with meningitis secondary to ecchordosis physaliphora. British J Neurosurg. 2019;33(1):99-100.
  14. 14. Derakhshani A, Livingston S, William C, Lieberman S, Young M, Pacione D, et al. Spontaneous, intrasphenoidal rupture of ecchordosis physaliphora with pneumocephalus captured during serial imaging and clinical follow-up: pathoanatomic features and management. World Neurosurg. 2020;141:85-90.
  15. 15. Ghimire P, Shapey J, Bodi I, Connor S, Thomas N, Barkas K. Spontaneous tension pneumocephalus and pneumoventricle in ecchordosis physaliphora: case report of a rare presentation and review of the literature. British J Neurosurg. 2020;34(5):537-42.
  16. 16. Veiceschi P, Arosio AD, Agosti E, Bignami M, Pistochini A, Cerati M, et al. Symptomatic ecchordosis physaliphora of the upper clivus: an exceedingly rare entity. Acta Neurochirurg. 2021;163(9):2475-86.
  17. 17. Sooltangos A, Bodi I, Ghimire P, Barkas K, Al-Barazi S, Thomas N, et al. Do all notochordal lesions require proton beam radiotherapy? A proposed reclassification of ecchordosis physaliphora as benign notochord cell tumor. J Neurolog Surg Part B: Skull Base. 2022;83(2):96-104.
  18. 18. Hasegawa H, Van Gompel JJ, Choby G, Raghunathan A, Little JT, Atkinson JL. Unrecognized notochordal lesions as a likely cause of idiopathic clival cerebrospinal fluid leaks. Clin Neurol Neurosurg. 2023;224:107562.
  19. 19. Aljawi M, Shkoukani M. Clival Defect Resulting in Spontaneous Cerebrospinal Fluid Rhinorrhea: Case Report and Review of Literature. Case Reports Otolaryngol. 2023;2023(1):3205191.
  20. 20. Adamek D, Malec M, Grabska N, Krygowska-Wajs A, Gałązka K. Ecchordosis physaliphora–a case report and a review of notochord-derived lesions. Neurologia Neurochirurgia Polska. 2011;45(2):169-73.
  21. 21. Toh PY, Ling S, Wong D, Tan JL. Surgically managed symptomatic ecchordosis physaliphora: a systematic review. Australian J Otolaryngol. 2023;6:4161.
  22. 22. Lakhani DA, Martin D. Ecchordosis physaliphora: case report and brief review of the literature. Radiol Case Reports. 2021;16(12):3937-9.