Muhammad Usman, Syed Muhammad Salman Hassan, Maria Batool, Ramisha Chaudhary, Salman Ahmed Malik
{"title":"Neurofibromatosis type 2: A challenging case report and multidisciplinary management approach.","authors":"Muhammad Usman, Syed Muhammad Salman Hassan, Maria Batool, Ramisha Chaudhary, Salman Ahmed Malik","doi":"10.47391/JPMA.21415","DOIUrl":null,"url":null,"abstract":"<p><p>Neurofibromatosis type 2 (NF2) is a genetic disorder characterised by multiple benign tumours in the nervous system. We present the case of a 16-year-old female with NF2, seen on April 29, 2023, at Nishtar Hospital, Multan, exhibiting symptoms such as swollen left eye, chronic headache, decreased vision, bilateral hearing loss, tinnitus, and gait issues. Diagnostic evaluation, including Magnetic Resonance Imaging (MRI), confirmed NF2 diagnosis based on National Institutes of Health (NIH) and Manchester criteria. Surgical resection is the primary treatment, but the patient refused and opted for herbal treatment due to personal and socioeconomic reasons. The report highlights the challenges in NF2 management and the importance of patient preferences.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1128-1130"},"PeriodicalIF":0.8000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Pakistan Medical Association","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.47391/JPMA.21415","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Neurofibromatosis type 2 (NF2) is a genetic disorder characterised by multiple benign tumours in the nervous system. We present the case of a 16-year-old female with NF2, seen on April 29, 2023, at Nishtar Hospital, Multan, exhibiting symptoms such as swollen left eye, chronic headache, decreased vision, bilateral hearing loss, tinnitus, and gait issues. Diagnostic evaluation, including Magnetic Resonance Imaging (MRI), confirmed NF2 diagnosis based on National Institutes of Health (NIH) and Manchester criteria. Surgical resection is the primary treatment, but the patient refused and opted for herbal treatment due to personal and socioeconomic reasons. The report highlights the challenges in NF2 management and the importance of patient preferences.
期刊介绍：
Primarily being a medical journal, JPMA publishes scholarly research focusing on the various fields in the areas of health and medical education. It publishes original research describing recent advances in health particularly clinical studies, clinical trials, assessments of pathogens of diagnostic importance, medical genetics and epidemiological studies. Review articles highlighting importance of various issues in the domain of public health, drug research and medical education are also accepted. As a leading journal of South Asia, JPMA remains cognizant of the recent advances in the rapidly growing fields of biomedical sciences, it invites and encourages scholars to write short reviews and invited editorials on the emerging issues. We particularly aim to promote health standards of developing countries by encouraging manuscript submissions on issues affecting the public health and health delivery services.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
