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PHACE(S) 综合征与眼睛的卷入和没有Periocular 血管瘤
Aisha Sheriff Kalambe1,2,3, Kazunobu Sugihara1, Kei Yamamoto4
1Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo, Japan.
Case reports in ophthalmology
|October 30, 2023
概括
即使没有眼睛附近的面部血管瘤,PHACE(S) 综合征也会导致眼睛问题. 早期的眼科检查对所有患有PHACE(S) 综合征的患者至关重要,以便及时诊断和管理.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- PHACE(S) 综合征是一种罕见的神经皮肤疾病,其特征是婴儿面部血管瘤 (IFH) 超过5厘米.
- 眼部表现很常见,但如果IFH不是外围轨道,眼睛检查通常被认为是低收益的.
- 这一案例突显了眼部参与PHACE (S) 综合征而没有外围轨道IFH的情况.
研究的目的:
- 报告PHACE(S) 综合征的独特病例,有显著的眼部发现.
- 强调在所有PHACE患者中进行全面的眼科评估的重要性,无论IFH的位置如何.
- 讨论眼睛和皮肤表现的管理和结果.
主要方法:
- 一个为期3周的女婴病例报告显示,该婴儿患有大外耳外侧IFH.
- 详细的眼科检查,包括B扫描超声波.
- 磁共振成像 (MRI) 和MR血管造影用于系统性评估.
- 用口服兰醇和染色激光治疗IFH;用眼睛假肢治疗phthisis bulbi.
主要成果:
- 这位患者表现出右眼的微眼症,食otropia,hypertropia,pseudoptosis和后极白内障.
- 眼镜成像显示了一个异形的球体,玻璃体出血,球面,以及右眼持续的胎儿血管.
- 没有检测到系统性异常;左眼正常.
- 这位患者在右眼中出现了形眼球 (phthisis bulbi),因此需要戴上眼睛假肢.
- 随着治疗,IFH出现回归,患者的病情保持稳定,发育正常.
结论:
- 在PHACE(S) 综合征中,眼部的参与可以独立于外轨道IFH发生.
- 对所有被诊断患有PHACE(S) 综合征的患者进行彻底的眼科评估是必不可少的.
- 眼部并发症的及时诊断和管理对于患者的结果至关重要.
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