Mautner V F, Tatagiba M, Guthoff R, Samii M, Pulst S M
Krankenhaus Ochsenzoll, Hamburg, Germany.
Neurosurgery. 1993 Jul;33(1):92-6. doi: 10.1227/00006123-199307000-00014.
Bilateral acoustic neurofibromatosis or neurofibromatosis 2 (NF2) is an autosomal dominant disease predisposing to the formation of multiple tumors in the central and peripheral nervous system. Vestibular schwannomas (VSs) are considered to be the hallmark of the disease, but other tumors and ocular findings occur as well. In patients that do not carry the NF2 mutation, VSs usually occur in the fifth or sixth decade of life. VSs in patients with NF2 are often bilateral and become symptomatic in the third or fourth decade of life. In order to define the early manifestations of NF2, we examined nine children who either had one parent with NF2 or had multiple skin or spinal tumors suggestive of NF2. In addition to neurological, dermatological, and ocular examinations, all patients were studied by gadolinium-enhanced magnetic resonance imaging of the brain and spine. None of the children exhibited symptoms or signs due to VSs. However, VSs were detected during the neuroradiological work-up in six children. Seven children developed symptoms or signs due to skin or spinal tumors. Slit lamp examination detected cataracts in four patients as young as 10 years of age. The diagnosis of NF2 in the pediatric age group requires a high degree of suspicion and should be considered in children with multiple central nervous system or skin tumors without cafe-au-lait spots or Lisch nodules. Because VSs are unlikely to produce the signs seen at the time of admission, careful examination of the skin and eyes is necessary and should be followed by gadolinium-enhanced magnetic resonance imaging of the brain and spine. First-degree relatives need to be examined as well.
双侧听神经纤维瘤病或神经纤维瘤病2型（NF2）是一种常染色体显性疾病，易导致中枢和周围神经系统形成多个肿瘤。前庭神经鞘瘤（VS）被认为是该疾病的标志，但也会出现其他肿瘤和眼部表现。在未携带NF2突变的患者中，VS通常出现在生命的第五或第六个十年。NF2患者的VS往往是双侧的，并在生命的第三个或第四个十年出现症状。为了确定NF2的早期表现，我们检查了9名儿童，他们要么有一位患有NF2的父母，要么有多个提示NF2的皮肤或脊柱肿瘤。除了进行神经、皮肤和眼科检查外，所有患者均接受了脑部和脊柱的钆增强磁共振成像检查。没有一个儿童因VS出现症状或体征。然而，在神经放射学检查中，6名儿童检测出VS。7名儿童因皮肤或脊柱肿瘤出现症状或体征。裂隙灯检查在4名年仅10岁的患者中发现了白内障。小儿年龄组NF2的诊断需要高度怀疑，对于患有多个中枢神经系统或皮肤肿瘤但无咖啡牛奶斑或Lisch结节的儿童应考虑NF2诊断。由于VS不太可能在入院时出现相关体征，因此有必要仔细检查皮肤和眼睛，随后进行脑部和脊柱的钆增强磁共振成像检查。一级亲属也需要接受检查。
