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2型神经纤维瘤病伴视力损害。

Neurofibromatosis Type-2 presenting with vision impairment.

作者信息

Alshoabi Sultan Abdulwadoud

机构信息

Sultan Abdulwadoud Alshoabi, Department of Diagnostic Radiology Technology, College of Applied Medical Sciences, Taibah University, Almadinah Almunawwarah, Kingdom of Saudi Arabia.

出版信息

Pak J Med Sci. 2023 Mar-Apr;39(2):611-615. doi: 10.12669/pjms.39.2.6813.

DOI:10.12669/pjms.39.2.6813
PMID:36950434
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10025740/
Abstract

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.

摘要

2型神经纤维瘤病(NF2)是一种常染色体显性遗传的肿瘤易感疾病,由位于22号染色体q12区域的基因突变引起。其特征是中枢和外周神经系统以及脑膜出现多个良性肿瘤,导致高发病率。本文介绍了一例罕见的NF2病例,患者为一名36岁女性,最初出现右眼视力障碍,随后出现耳鸣并伴有听力受损,视力障碍最终发展为失明。进行了磁共振成像(MRI)检查,结果显示右侧桥小脑角前庭神经鞘瘤以及脑周围多个脑膜瘤。根据MRI检查结果,该患者被诊断为NF2。本病例报告旨在阐明早期脑部成像对于年轻成年人任何视力障碍的重要性,并强调医学成像在罕见病例诊断中的关键作用。此外,本文详细描述了NF2中发生的肿瘤的MRI特征和诊断准确性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/de7d763733e9/PJMS-39-611-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/e81bed7632ef/PJMS-39-611-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/9cc7370a8b27/PJMS-39-611-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/de7d763733e9/PJMS-39-611-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/e81bed7632ef/PJMS-39-611-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/9cc7370a8b27/PJMS-39-611-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/464b/10025740/de7d763733e9/PJMS-39-611-g003.jpg

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Re-evaluation of missense variant classifications in NF2.重新评估 NF2 中的错义变异分类。
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Neurofibromatoses.神经纤维瘤病。
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Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas.2型神经纤维瘤病的发病年龄和首发症状作为前庭神经鞘瘤临床病程的预后因素
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