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Neurofibromatosis Type-2 presenting with vision impairment
1Sultan Abdulwadoud Alshoabi, Department of Diagnostic Radiology Technology, College of Applied Medical Sciences, Taibah University, Almadinah Almunawwarah, Kingdom of Saudi Arabia.
Pakistan Journal of Medical Sciences
|March 23, 2023
Summary
Neurofibromatosis Type-2 (NF2) is a rare genetic disorder causing tumors. Early brain imaging is crucial for diagnosing NF2, especially with visual disturbances, aiding in timely intervention.
Area of Science:
- Genetics
- Oncology
- Neurology
Background:
- Neurofibromatosis Type-2 (NF2) is an autosomal dominant genetic disorder linked to the NF2 gene on chromosome 22q12.
- It predisposes individuals to benign tumors in the central and peripheral nervous systems and meninges, leading to significant morbidity.
Observation:
- A rare case of NF2 presented in a 36-year-old female with progressive visual disturbances leading to blindness.
- Symptoms included tinnitus and hearing impairment, alongside visual issues.
Findings:
- Magnetic Resonance Imaging (MRI) revealed a right cerebellopontine angle vestibular schwannoma and multiple intracranial meningiomas.
- These findings confirmed the diagnosis of NF2.
Implications:
- This case underscores the importance of early brain imaging in young adults experiencing visual disturbances.
- It highlights the critical role of medical imaging, particularly MRI, in diagnosing rare conditions like NF2 and its associated tumors.
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