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Case Report
Open Access Peer-reviewed

Fatal Case of Dysphagia Induced by Neurofibromatosis Type II

Ken-ichi Muramatsu, Hiroki Nagasawa, Soichiro Ota, Kei Jitsuiki, Hiromichi Ohsaka, Youichi Yanagawa
American Journal of Medical Case Reports. 2021, 9(10), 507-508. DOI: 10.12691/ajmcr-9-10-7
Received May 04, 2021; Revised June 06, 2021; Accepted June 14, 2021

Abstract

A 17-year-old boy was found in an unconscious state. He had had neurofibromatosis type 2 (NF2) since 9 years old. His history included multiple operations for NF2 at the left jugular vein foramen, thoracic spinal cord, and cervical spinal cord at 9 and 10 years old. However, remaining bilateral acoustic tumors resulted in the onset of aspirated pneumonia within a few months. He was found unconscious in his dormitory. When emergency medical technicians checked him, he was in cardiac arrest. Saburra was identified in his mouth. He did not achieve return of spontaneous circulation with advanced cardiac life support. Autopsy imaging revealed residual bilateral acoustic tumors compressing the brain stem. NF2 is a serious disease that can rapidly become life-threatening. We hope new treatments that will improve the survival of NF2 patients will be developed soon.

1. Introduction

Neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are tumor-suppressor syndromes. Systematic investigations of the pathways impacted by the loss of the function of neurofibromin (encoded by NF1) and merlin (encoded by NF2) have led to advances in treatments for patients with NF1 and NF2. 1

The manifestations of NF1 are as a neurocutaneous syndrome, with hallmark lesions involving the skin, including café au lait spots, intertriginous freckling, and cutaneous and subcutaneous neurofibromas. 1 The hallmark lesions of NF2 are bilateral vestibular schwannomas, which are the most common cause of morbidity among patients with NF2, resulting in bilateral sensorineural hearing loss, tinnitus, difficulty maintaining balance, and ultimately deafness, facial nerve weakness, and possible brainstem compression. 1

We herein report a fatal case of NF2 in a young patient.

2. Case Presentation

A 17-year-old boy was found in an unconscious state. He had NF2 since 9 years old. His history included multiple operations for NF2 at the left jugular vein foramen, thoracic spinal cord, and cervical spinal cord at 9 and 10 years old. However, remaining bilateral acoustic tumors resulted in the onset of aspirated pneumonia within a few months. He was found at unconsciousness state in a toilet at a diet room in a dormitory. When emergency medical technicians checked him, he was in a cardiac arrest. Initial rhythm was asystole. Saburra was identified in his mouth, and after its resolution, he underwent tracheal intubation and advanced cardiac life support.

A venous blood gas analysis on arrival at out hospital revealed the following: pH, 6.657; PaCO2, 156; HCO3, 16.4 mmol/L, base excess -42.5 mmol/L, glucose, 564 mg/dL and potassium, 11.0 mEq/L. He did not achieve return of spontaneous circulation with advanced cardiac life support. Autopsy imaging revealed residual bilateral acoustic tumors compressing the brain stem (Figure 1).

3. Discussion

Aboukais et al. performed a retrospective review of 80 patients with NF2 disease and investigated the cause of death. 2 Among them, there were seven deaths. The mean age at the diagnosis of the patients who died was 26 years old, and the mean age of death was 38.9 years old (youngest age: 25 years old). The present case was even younger than those cases, but it was Wu et al. who reported the youngest fatal cases (9 years old) due to brain metastasis of a malignant peripheral nerve sheath tumor in an NF2 patient. 3 The causes of death in Aboukais et al. were suicide in one patient, hematoma after surgical removal of grade IV vestibular schwannoma in one patient, aspiration pneumonia after swallowing issues in three patients, intracranial hypertension related to growth of multiple meningiomas in one patient, and brachial plexus sarcoma grade 3 in one patient. 3 Based on these findings, the authors concluded that NF2 is a serious disease that can rapidly become life-threatening.

The presence of lower cranial nerves schwannomas is a poor prognostic factor, similar to the present patient. Aspirated pneumonia due to dysphagia is associated with poor short- and long-term prognoses, even in children. 4, 5 NF experts and patient representatives support the prioritization of the development of drug trials for improving the prognosis of patients with NF2. 6

4. Conclusion

NF2 is a serious disease that can rapidly become life-threatening. We hope new treatments that will improve the survival of NF2 patients will be developed soon.

Acknowledgements

This work was supported in part by a Grant-in-Aid for Special Research in Subsidies for ordinary expenses of private schools from The Promotion and Mutual Aid Corporation for Private Schools of Japan.

References

[1]  Cunha BA, Burillo A, Bouza E. Legionnaires' disease. Lancet. Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016 May; 18(5): 624-38.
In article      View Article
 
[2]  Aboukais R, Zairi F, Bonne NX, Baroncini M, Schapira S, Vincent C, Lejeune JP. Causes of mortality in neurofibromatosis type 2. Br J Neurosurg. 2015 Feb; 29(1): 37-40.
In article      View Article
 
[3]  Wu L, Deng X, Yang C, Xu Y. Spinal intradural malignant peripheral nerve sheath tumor in a child with neurofibromatosis type 2: the first reported case and literature review. Turk Neurosurg. 2014; 24(1): 135-9.
In article      
 
[4]  Kohda E, Hisazumi H, Hiramatsu K. Swallowing dysfunction and aspiration in neonates and infants. Acta Otolaryngol Suppl. 1994; 517: 11-6.
In article      View Article
 
[5]  Akata K, Noguchi S, Kawanami T, Hata R, Naito K, Mukae H, Yatera K. Microbiology of Aspiration Pneumonia. J UOEH. 2019; 41(2): 185-192. In Japanese
In article      View Article
 
[6]  Dhaenens BAE, Ferner RE, Bakker A, Nievo M, Evans DG, Wolkenstein P, Potratz C, Plotkin SR, Heimann G, Legius E, Oostenbrink R. Identifying challenges in neurofibromatosis: a modified Delphi procedure. Eur J Hum Genet. 2021 Apr 26: 1-9.
In article      View Article
 

Published with license by Science and Education Publishing, Copyright © 2021 Ken-ichi Muramatsu, Hiroki Nagasawa, Soichiro Ota, Kei Jitsuiki, Hiromichi Ohsaka and Youichi Yanagawa

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

Cite this article:

Normal Style
Ken-ichi Muramatsu, Hiroki Nagasawa, Soichiro Ota, Kei Jitsuiki, Hiromichi Ohsaka, Youichi Yanagawa. Fatal Case of Dysphagia Induced by Neurofibromatosis Type II. American Journal of Medical Case Reports. Vol. 9, No. 10, 2021, pp 507-508. http://pubs.sciepub.com/ajmcr/9/10/7
MLA Style
Muramatsu, Ken-ichi, et al. "Fatal Case of Dysphagia Induced by Neurofibromatosis Type II." American Journal of Medical Case Reports 9.10 (2021): 507-508.
APA Style
Muramatsu, K. , Nagasawa, H. , Ota, S. , Jitsuiki, K. , Ohsaka, H. , & Yanagawa, Y. (2021). Fatal Case of Dysphagia Induced by Neurofibromatosis Type II. American Journal of Medical Case Reports, 9(10), 507-508.
Chicago Style
Muramatsu, Ken-ichi, Hiroki Nagasawa, Soichiro Ota, Kei Jitsuiki, Hiromichi Ohsaka, and Youichi Yanagawa. "Fatal Case of Dysphagia Induced by Neurofibromatosis Type II." American Journal of Medical Case Reports 9, no. 10 (2021): 507-508.
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[1]  Cunha BA, Burillo A, Bouza E. Legionnaires' disease. Lancet. Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016 May; 18(5): 624-38.
In article      View Article
 
[2]  Aboukais R, Zairi F, Bonne NX, Baroncini M, Schapira S, Vincent C, Lejeune JP. Causes of mortality in neurofibromatosis type 2. Br J Neurosurg. 2015 Feb; 29(1): 37-40.
In article      View Article
 
[3]  Wu L, Deng X, Yang C, Xu Y. Spinal intradural malignant peripheral nerve sheath tumor in a child with neurofibromatosis type 2: the first reported case and literature review. Turk Neurosurg. 2014; 24(1): 135-9.
In article      
 
[4]  Kohda E, Hisazumi H, Hiramatsu K. Swallowing dysfunction and aspiration in neonates and infants. Acta Otolaryngol Suppl. 1994; 517: 11-6.
In article      View Article
 
[5]  Akata K, Noguchi S, Kawanami T, Hata R, Naito K, Mukae H, Yatera K. Microbiology of Aspiration Pneumonia. J UOEH. 2019; 41(2): 185-192. In Japanese
In article      View Article
 
[6]  Dhaenens BAE, Ferner RE, Bakker A, Nievo M, Evans DG, Wolkenstein P, Potratz C, Plotkin SR, Heimann G, Legius E, Oostenbrink R. Identifying challenges in neurofibromatosis: a modified Delphi procedure. Eur J Hum Genet. 2021 Apr 26: 1-9.
In article      View Article