罗思点在一个Rendu-osler-weber综合征
Thomas Ferreira de Moura1,2, Amélie Servettaz3, Adrien Henry1
1Université Reims Champagne-Ardenne, Service d'ophtalmologie, Centre Hospitalier Universitaire de Reims, rue du Général Koenig, Reims, France.
Retinal cases & brief reports
|August 28, 2023
概括
这份病例报告详细介绍了一名患有Rendu-Osler-Weber综合征和青少年多发症的患者,该患者出现了罕见的眼部发现和SMAD-4基因突变. 分子诊断证实了这种关联,突出了遗传性出血性telangiectasia的非典型表现.
科学领域:
- 遗传学 遗传学 是一个
- 眼科医生 眼科 眼科
- 神经学 神经学
背景情况:
- 遗传性出血端膜炎症 (HHT),或伦杜-奥斯勒-韦伯综合征,是一种自体主导性疾病.
- 青少年多综合征 (JPS) 是一种胃肠道疾病,其特征是多个多.
- HHT和JPS的同时发生是罕见的,表明潜在的共同遗传途径.
研究的目的:
- 描述一个患有同时存在Rendu-Osler-Weber综合征和青少年多重症综合征的患者的分子诊断.
- 为了记录这个患者的异常眼部表现.
- 为了研究综合综合症的遗传基础.
主要方法:
- 一个35岁的女性患者的病例报告.
- 眼睛检查包括眼底镜检查.
- 神经成像:脑部MRI和动脉造影.
- 下一代测序用于基因测试.
主要成果:
- 患者呈现出右半,同名半视,和感官缺陷.
- 眼科的发现包括左底部的罗斯斑点.
- 基因检测发现了异合体状态下一种致病性SMAD-4基因变异 (c.1245_1248del).
- 观察到一个带眼动脉瘤,这在HHT中是一个不寻常的发现.
结论:
- 这项研究强调了与JPS相关的HHT异常呈现.
- 鉴定到的SMAD-4突变可能与观察到的非典型特征有关,包括带眼动脉瘤.
- 这一案例强调了分子诊断在理解复杂遗传综合征及其各种表现方面的重要性.
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