Neurofibromatosis Type-2 presenting with vision impairment

• Published in: Pakistan journal of medical sciences Vol. 39; no. 2; pp. 611 - 615
• Main Author: Alshoabi, Sultan Abdulwadoud
• Format: Journal Article
• Language: English
• Published: Pakistan Knowledge Bylanes 30-04-2023; AsiaNet Pakistan (Pvt) Ltd; Professional Medical Publications
• Subjects: Brain cancer; Case Report; Cataracts; Gene mutations; Genetic aspects; Genetic disorders; Medical imaging; Medical imaging equipment; Mutation; Neurofibromatosis; Neurological disorders; Tumors; Visual impairment; Young adults; Neurofibromatosis Type-2; Tinnitus; Visual impairment; Multiple meningiomas; Vestibular schwannoma
• ISSN: 1682-024X; 1681-715X
• DOI: 10.12669/pjms.39.2.6813

Neurofibromatosis Type-2 (NF2) is an autosomal dominant genetic tumour-predisposing condition caused by mutations in the
gene located on chromosome 22q12. It is characterized by multiple benign tumours of the central and peripheral nervous systems and meninges, causing high morbidity. Herein, presentation of a rare case of NF2 in a 36-year-old female who presented with right eye visual disturbances, followed by tinnitus with hearing impairment. The visual disturbance developed into blindness. Magnetic resonance imaging (MRI) was performed, which showed a right-side cerebellopontine angle vestibular schwannoma and multiple meningiomas around the brain. According to the MRI findings, the patient was diagnosed with NF2. This case report aims to elucidate the importance of early brain imaging in any visual disturbances in young adults and to highlight the key role of medical imaging in the diagnosis of rare cases. Moreover, this describe the MRI features and the diagnostic accuracy for the tumours occurring in NF2 in detail.