Year :
2024
| Month :
April
| Volume :
18
| Issue :
4
| Page :
TD01 - TD05
Multiple Cranial Nerve Involvement in a Complex Case of MISME Syndrome in a Paediatric Patient: A Case Report
Afwaan Faizal, Michael Antony Vikram, Ajay Lucas Rubben Prabhu, Dinesh Babu Jawahar, Sam Raja
1. Junior Resident, Department of Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, Tamil Nadu, India.
2. Junior Resident, Department of Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, Tamil Nadu, India.
3. Junior Resident, Department of Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, Tamil Nadu, India.
4. Senior Resident, Department of Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, Tamil Nadu, India.
5. Senior Resident, Department of Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Chennai, Tamil Nadu, India.
Correspondence Address :
Dr. Ajay Lucas Rubben Prabhu,
19, Abi Ajay Building, Rangarajulu Street, Aminjikarai-600029, Chennai, Tamil Nadu, India.
E-mail: mslucas007@gmail.com
Abstract
Neurofibromatosis 2 (NF2) is characterised by numerous tumours in the central and peripheral nervous systems due to NF2 gene abnormalities that cause the tumour suppressor protein, Merlin, to disappear. Often referred to as Multiple Inherited Schwannomas, Meningiomas, and Ependymomas (MISME), a distinctive characteristic of NF2 is bilateral vestibular schwannomas manifesting in late adolescence with symptoms such as sensorineural hearing loss, tinnitus, and balance issues. Two distinct phenotypes, Wishart and Feiling-Gardner, characterise NF2. This case report discusses the case of a paediatric patient who presented with bilateral hearing loss, giddiness, and blurring of vision and sought a Magnetic Resonance Imaging (MRI) examination which revealed bilateral vestibular schwannomas, non vestibular schwannomas, left sphenoid wing meningiomas, multidirectional spinal schwannomas, spinal nerve sheath tumours, and lesions in the retroperitoneal region. Despite an absent family history, significant involvement of cranial nerves strongly indicates classical NF2. Management focuses on preserving function, and surgery is contemplated for symptomatic lesions and tumours causing cord compression. Gamma Knife radiosurgery and targeted therapies have been investigated.
Keywords
Computed tomography, Magnetic resonance imaging, Multiple inherited schwannomas, Meningiomas, and ependymomas, Vestibular schwannoma
DOI and Others
DOI: 10.7860/JCDR/2024/69601.19254
Date of Submission: Jan 15, 2024
Date of Peer Review: Feb 17, 2024
Date of Acceptance: Feb 23, 2024
Date of Publishing: Apr 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Jan 15, 2024
• Manual Googling: Feb 19, 2024
• iThenticate Software: Feb 21, 2024 (6%)
ETYMOLOGY: Author Origin
EMENDATIONS: 6
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