• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Turk Neuroloji Dergisi >Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics
【24h】

Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics

机译：两例具有不同现象的家族性神经纤维瘤病病例

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Scientific BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disease which affects skin, nervous system and eyes. Neurofibromatosis has two frequently seen subtypes which are called Type 1 (Von Recklinghausen disease: periferal neurofibromatosis) and Type 2. Type 1 is characterized with cafe au lait spots, periferal neurofibroms, Lisch nodules and axillar freckles. Type 2 is central neurofibromatosis which appears with bilateral acoustic neurinoms with slightly cutaneous changes around twenty years old. Convulsive disorders are seen in about 5% of patients. OBJECTIVE: We emphasized the importance of early diagnosis and genetic counseiling on epilepsy.CASE: We examined two cases that belong to the same family with definitively clinical diagnosis on neurofibromatosis type 1. The mother had amnesia, dermal invasion, forgetfulness, Lisch nodules and no family history. Her daughter had learning disability, dermal invasion, and refractory epilepsy.CONCLUSION: We considered genetic transmission which was possible mutational transmission for mother and autosomal dominant transmission for daughter. We emphasized that there may be different clinical features in the same family.
机译：科学背景：神经纤维瘤病是一种常染色体显性遗传疾病，会影响皮肤，神经系统和眼睛。神经纤维瘤病有两种常见的亚型，分别称为1型（冯·瑞克林豪森氏病：膜性神经纤维瘤病）和2型。1型的特征是咖啡色斑，膜生性神经纤维瘤，Lisch结节和腋窝雀斑。 2型是中枢神经纤维瘤病，伴有双侧听觉神经瘤，在20岁左右出现皮肤轻微改变。约5％的患者可见抽搐障碍。目的：我们强调癫痫病的早期诊断和遗传咨询的重要性。病例：我们检查了两个属于同一家族的病例，这些病例明确诊断为1型神经纤维瘤病。家史。结论：我们考虑了遗传传播，这可能是母亲的突变传播和女儿的常染色体显性传播。我们强调，同一家庭可能有不同的临床特征。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号