上睑下垂、视力模糊与多发性颅神经肿瘤：我们找到病因了吗？
Ptosis, Visual Blurring, and Multiple Cranial Nerve Tumors: Do We Know the Culprit.
作者信息
Singanamalla Bhanudeep, Vyas Sameer, Madaan Priyanka, Saini Lokesh
机构信息
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh, 160012 India.
Department of Radiodiagnosis and Imaging, PGIMER, Chandigarh, India.
出版信息
Indian J Otolaryngol Head Neck Surg. 2022 Dec;74(Suppl 3):5361-5363. doi: 10.1007/s12070-021-02599-5. Epub 2021 May 5.
Abstract
Neurofibromatosis type 2 (NF2) is a monogenic condition caused by mutations in the gene. Examination of skin and eyes and parental screening play a key role in the diagnosis of pediatric NF2. We report a four-year-old boy, who presented sub-acutely with unilateral vision loss, ptosis and exotropia with a positive family history of NF2.
摘要
2型神经纤维瘤病（NF2）是一种由该基因突变引起的单基因疾病。皮肤和眼睛检查以及对父母的筛查在儿童NF2的诊断中起着关键作用。我们报告一名4岁男孩，他亚急性出现单侧视力丧失、上睑下垂和外斜视，且有NF2家族史阳性。
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