From the Department of Neurology (C.G., D.H.G.), Washington University School of Medicine, St. Louis, MO; Ann & Robert H. Lurie Children's Hospital of Chicago (R.L.), Feinberg School of Medicine, Northwestern University, IL; Division of Oncology (M.J.F., A.P.), Children's Hospital of Philadelphia, PA; and Department of Neurology (C.J.C.), Stanford University, Palo Alto, CA.
Neurology. 2019 Sep 3;93(10):e964-e967. doi: 10.1212/WNL.0000000000008065. Epub 2019 Jul 30.
To educate providers to recognize the clinical presentation of neurofibromatosis 2 (NF2) in young children.
A retrospective analysis of 22 children with NF2 from 4 tertiary care NF referral centers was performed. Age and signs/symptoms at initial presentation, age at NF2 diagnosis, family history, clinical/radiographic NF2 features, NF2 genetic testing results, and treatments were assessed.
The average age at initial clinical presentation was 48.1 months, while the average age at NF2 diagnosis was 77.2 months. Children with a family history of NF2 (23%) tended to present earlier (mean 39.2 vs 50.7 months) and have shorter times to NF2 diagnosis (mean 1.6 vs 37.2 months). Vision/eye complaints (n = 9; 41%) were the most commonly reported presenting signs/symptoms. Meningiomas (n = 7; 32%) and ocular abnormalities (n = 5; 23%) were the most frequently identified initial NF2 features. Vestibular (n = 17; 77%) and peripheral (n = 15; 68%) schwannomas were the most common abnormalities encountered over the study period. Seventeen (77%) children required treatment, most frequently for vestibular schwannomas (n = 9; 41%), peripheral schwannomas (n = 7; 32%), and meningiomas (n = 7; 32%). Genetic testing was available for 13 individuals, in whom nonsense mutations were most commonly identified (n = 7; 54%).
Although uncommon, a substantial number of individuals with NF2 come to medical attention in early childhood. The finding of meningioma or characteristic ocular abnormalities (retinal hamartomas and epiretinal membranes) in young children should raise clinical suspicion for NF2 and prompt immediate referral to appropriate specialists for diagnosis and management.
教育医务人员识别儿童期神经纤维瘤病 2 型（NF2）的临床表现。
对来自 4 个 NF2 三级医疗转诊中心的 22 例 NF2 患儿进行回顾性分析。评估了患儿的初诊年龄和症状、NF2 诊断年龄、家族史、临床/影像学 NF2 特征、NF2 基因检测结果和治疗情况。
初诊时的平均年龄为 48.1 个月，NF2 诊断时的平均年龄为 77.2 个月。有 NF2 家族史的患儿（23%）倾向于更早出现症状（平均年龄 39.2 岁比 50.7 岁），更早确诊 NF2（平均 1.6 岁比 37.2 岁）。视力/眼部症状（9 例，41%）是最常见的初诊症状。脑膜瘤（7 例，32%）和眼部异常（5 例，23%）是最常见的初诊 NF2 特征。在研究期间，最常见的异常是前庭（17 例，77%）和外周（15 例，68%） schwannomas。17 例（77%）患儿需要治疗，最常见的是前庭 schwannomas（9 例，41%）、外周 schwannomas（7 例，32%）和脑膜瘤（7 例，32%）。对 13 名患儿进行了基因检测，最常见的是无义突变（7 例，54%）。
尽管不常见，但相当数量的 NF2 患儿在儿童早期就引起了医疗关注。儿童期出现脑膜瘤或特征性眼部异常（视网膜错构瘤和视网膜前膜）应引起对 NF2 的临床怀疑，并立即转介给相关专家进行诊断和管理。
