Arteriovenous Malformation: A Rare Manifestation of PHACE Syndrome

Arteriovenous Malformation: A Rare Manifestation of PHACE Syndrome
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DOI:
10.1111/j.1525-1470.2011.01371.x
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发表时间:
2011-03-01
影响因子:
1.5
通讯作者:
Metry, Denise
Metry, Denise
中科院分区:
医学4区
文献类型:
--
作者:
Brandon, Kirra;Burrows, Patricia;Metry, Denise

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我们报告了2例PHACE综合征(后颅窝缺损、血管瘤、动脉畸形、心脏畸形和眼缺损的神经皮肤相关性的首字母缩写)伴动静脉瘘/畸形(AVF/AVM)。虽然脑动脉异常是该综合征的主要特征,但诊断标准不包括AVF/AVM。据我们所知,我们的病例是第五和第六例报告的PHACE综合征和AVF/AVM发生在同一患者中的病例。考虑到PHACE综合征和AVM的罕见性,以及脑血管异常和节段性婴儿血管瘤之间的已知关系,我们认为这些患者的同时发生是相关的。
We present two cases of PHACE syndrome (an acronym for the neurocutaneous association of posterior fossa defects, hemangiomas, arterial anomalies, cardiac anomalies, and eye defects) associated with arteriovenous fistulae/malformation (AVF/AVM). While cerebral arterial anomalies are a main feature of this syndrome, the diagnostic criteria do not include AVF/AVM. To our knowledge, our cases are the fifth and sixth reported cases of PHACE syndrome and AVF/AVM occurring in the same patient. Given the rarity of both PHACE syndrome and AVM, and the known relationship between cerebrovascular anomalies and segmental infantile hemangioma, we suggest that the simultaneous occurrence in these patients is related.