在DEGCAGS综合征中的新型气道挑战:管理婴儿喉瘤
Hongfang Duan1, Chen Chen1, Guo Xu1
1Department of Otolaryngology - Head and Neck Surgery, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
The American journal of case reports
|November 8, 2025
概括
DEGCAGS综合征是一种罕见的遗传性疾病,可以导致罕见的呼吸道并发症,如喉哈马托马. 这一案例凸显了在受影响儿童中认识到这些罕见问题的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- DEGCAGS综合征是一种罕见的遗传疾病,由ZNF699基因突变引起.
- 它具有影响多个系统的多种临床特征.
- 呼吸道并发症在DEGCAGS综合征中非常罕见.
研究的目的:
- 报告DEGCAGS综合征患者罕见的呼吸道并发症病例.
- 描述临床表现,诊断和管理的喉哈马托马在这一背景下.
主要方法:
- 一个1岁女孩的病例报告证实了DEGCAGS综合征.
- 诊断工作包括成像 (CT,MRI) 和光纤鼻镜.
- 手术干预涉及大体切除和脑膜形术.
主要成果:
- 患者呈现出逐渐增长的,呼吸困难和食困难.
- 识别出了鼻和舌头底部质量,声带胀和喉发.
- 组织病理学证实了hamartomas;手术管理导致稳定的呼吸和养.
结论:
- 这是第一个在DEGCAGS综合征中出现多重喉哈马托马的记录.
- 强调需要对遗传性疾病罕见并发症进行临床警.
- 强调了多学科的诊断和管理方法的重要性.
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