PHACE (S) 综合征 - - 在上面部区域的早期诊断
Natalia Kiseilyova1, Lyudmila Yakovenko2, Larisa Tyshko2
1BOGOMOLETS NATIONAL MEDICAL UNIVERSITY, KYIV, UKRAINE.
Wiadomosci lekarskie (Warsaw, Poland : 1960)
|October 29, 2023
概括
在患有婴儿血液瘤的婴儿中,早期诊断PHACE(S) 综合征是可以使用MRI. 这可以识别症状前的心血管和大脑异常,使得及时干预.
科学领域:
- 儿科皮肤病学 儿科皮肤病学
- 医疗成像医学成像
- 遗传学和罕见疾病
背景情况:
- 婴儿血瘤 (IH) 是婴儿常见的血管瘤.
- PHACE(S) 综合征是一种与IH相关的复杂疾病,影响多个器官系统.
- 早期诊断PHACE(S) 综合征对于有效的管理和改善结果至关重要.
研究的目的:
- 建立早期诊断新生儿和婴儿PHACE (S) 综合征的最低标准.
- 为了确定出现面婴儿血栓瘤的婴儿的关键诊断指标.
主要方法:
- 对26名无症状婴儿进行了回顾性分析,这些婴儿患有大面部IH (>5厘米2).
- 评估临床数据,霍尔特监测,心声回声和MRI.
- 对心血管和中枢神经系统异常的评估.
主要成果:
- 在两个病例 (8%) 中诊断出PHACE(S) 综合征,呈现出心血管 (大动脉缩) 和脑 (丹迪-沃克形) 异常,并通过MRI检测出异常.
- 这些病例涉及12个月和2.5岁的婴儿,面部IH影响了几个细分.
- 在35%的儿童中发现了状孔; 中枢神经系统疾病在12%.
结论:
- 与对比度增强的MRI可以促进PHACE(S) 综合征的早期诊断在无症状婴儿与面部IH.
- 核磁共振是检测预症状心血管和大脑异常的必要条件.
- 早期识别可以及时干预PHACE (S) 综合征.
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