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Neuroscience Updates 2024, 2(1): 99-107 |
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Fathima Anis A, Thomas Mathew K, Lamiya A, Rampurawala F A, Salam N. Clinical Case Report on Adolescent Onset Neurofibromatosis Type 2. Neuroscience Updates 2024; 2 (1) :99-107
URL: http://neuroupdates.de/article-1-115-en.html
URL: http://neuroupdates.de/article-1-115-en.html
Afrah Fathima Anis1 
, Kevin Thomas Mathew *1 , Aysha Lamiya1 , Fatema Aliasger Rampurawala1 , Nadeeja Salam2
, Kevin Thomas Mathew *1 , Aysha Lamiya1 , Fatema Aliasger Rampurawala1 , Nadeeja Salam2
1- Doctor of Medicine, David Tvildiani Medical University, Tbilisi, Georgia
2- Department of Family Medicine, Diwan Health Complex, Salalah, Oman
2- Department of Family Medicine, Diwan Health Complex, Salalah, Oman
Abstract: (7850 Views)
Background: Neurofibromatosis Type 2 is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma, and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report, we aim to present the case of a 15-year-old male whose chief complaints were unexplained falls, imbalance and decreased hearing. During his workup, which included cranial and whole spine magnetic resonance imaging he was found to have a Bilateral Vestibulocochlear schwannoma with multiple meningioma. Based on clinical and imaging findings, the diagnosis of neurofibromatosis type 2 was made. Our report also details the long-term follow-up of a vestibulocochlear schwannoma with growth patterns before and following treatment.
Case Description: A 15-year-old, energetic male teenager, athletic and a skilled musician was diagnosed as suffering from Neurofibromatosis 2, in September 2019. At presentation, he had bilateral vestibular schwannoma, right optic nerve sheath meningioma, small anterior falx meningioma, cervico-medullary and dorsal cord lesions (likely ependymomas) and multiple cauda equina lesions (likely nerve sheath tumors – schwannoma) revealed by imaging and treated by surgery over a period of 2 years. He was finally treated with stereotactic radiotherapy and at 1 year following treatment tumor showed shrinkage. He presented to our clinic for his biannual MRI of the brain with and without contrast.
Conclusion: This case represents the sporadic occurrence of vestibular schwannomas in a young patient. The age of the patient, the presence of multiple tumors and in addition to the typical vestibular schwannomas led to a diagnosis of neurofibromatosis type 2 (NF- 2). With no known family history, the use of cranial imaging studies in addition to clinical findings, played a key role in his diagnosis. The individualized treatment provided played a significant role in tumor size shrinkage. Follow-up cranial MRI studies were significant in tracing changes in the tumor morphology.
Case Description: A 15-year-old, energetic male teenager, athletic and a skilled musician was diagnosed as suffering from Neurofibromatosis 2, in September 2019. At presentation, he had bilateral vestibular schwannoma, right optic nerve sheath meningioma, small anterior falx meningioma, cervico-medullary and dorsal cord lesions (likely ependymomas) and multiple cauda equina lesions (likely nerve sheath tumors – schwannoma) revealed by imaging and treated by surgery over a period of 2 years. He was finally treated with stereotactic radiotherapy and at 1 year following treatment tumor showed shrinkage. He presented to our clinic for his biannual MRI of the brain with and without contrast.
Conclusion: This case represents the sporadic occurrence of vestibular schwannomas in a young patient. The age of the patient, the presence of multiple tumors and in addition to the typical vestibular schwannomas led to a diagnosis of neurofibromatosis type 2 (NF- 2). With no known family history, the use of cranial imaging studies in addition to clinical findings, played a key role in his diagnosis. The individualized treatment provided played a significant role in tumor size shrinkage. Follow-up cranial MRI studies were significant in tracing changes in the tumor morphology.
Type of Study: Case Report |
Subject:
Clinical Neuroscience
Received: 2024/10/10 | Accepted: 2024/11/20 | Published: 2024/12/15
Received: 2024/10/10 | Accepted: 2024/11/20 | Published: 2024/12/15
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