Department of Radiology, University of California, San Francisco, 94143-0628, USA.
AJNR Am J Neuroradiol. 2010 Nov;31(10):1980-6. doi: 10.3174/ajnr.A2206. Epub 2010 Aug 12.
Cerebral and cervical arterial abnormalities are the most common non-cutaneous anomaly in PHACE syndrome, but the location and type of arterial lesions that occur have not been systematically assessed in a large cohort. Our aim was to characterize the phenotypic spectrum of arteriopathy, assess the frequency with which different arteries are involved, and evaluate spatial relationships between arteriopathy, brain structural lesions, and hemangiomas in PHACE syndrome.
Intracranial MRA and/or CTA images from 70 children and accompanying brain MR images in 59 patients with arteriopathy and PHACE syndrome were reviewed to identify the type and location of arterial lesions and brain abnormalities. Five categories of arteriopathy were identified and used for classification: dysgenesis, narrowing, nonvisualization, primitive embryonic carotid-vertebrobasilar connections, and anomalous arterial course or origin. Univariate logistic regression analyses were performed to test for associations between arteriopathy location, hemangiomas, and brain abnormalities.
By study design, all patients had arterial abnormalities, and 57% had >1 form of arteriopathy. Dysgenesis was the most common abnormality (56%), followed by anomalous course and/or origin (47%), narrowing (39%), and nonvisualization (20%). Primitive embryonic carotid-vertebrobasilar connections were present in 20% of children. Hemangiomas were ipsilateral to arteriopathy in all but 1 case. The frontotemporal and/or mandibular facial segments were involved in 97% of cases, but no other specific associations between arteriopathy location and hemangioma sites were detected. All cases with posterior fossa anomalies had either ICA anomalies or persistent embryonic carotid-basilar connections.
The arteriopathy of PHACE syndrome commonly involves the ICA and its embryonic branches, ipsilateral to the cutaneous hemangioma, with dysgenesis and abnormal arterial course the most commonly noted abnormalities. Brain abnormalities are also typically ipsilateral.
在 PHACE 综合征中，脑和颈内动脉异常是最常见的非皮肤异常，但尚未在大样本中系统评估发生的动脉病变的位置和类型。我们的目的是描述动脉病变的表型谱，评估不同动脉受累的频率，并评估 PHACE 综合征中动脉病变、脑结构病变和血管畸形之间的空间关系。
回顾了 70 例患儿的颅内 MRA 和/或 CTA 图像和 59 例伴有动脉病变和 PHACE 综合征的患儿的脑 MRI 图像，以识别动脉病变和脑异常的类型和位置。确定了 5 种动脉病变类型并用于分类：发育不良、狭窄、未显影、原始胚胎颈动脉-椎基底动脉连接以及异常动脉走行或起源。采用单变量逻辑回归分析来检验动脉病变位置、血管畸形和脑异常之间的相关性。
根据研究设计，所有患者均存在动脉异常，57%的患者存在>1 种形式的动脉病变。发育不良是最常见的异常（56%），其次是异常走行和/或起源（47%）、狭窄（39%）和未显影（20%）。20%的患儿存在原始胚胎颈动脉-椎基底动脉连接。除 1 例外，血管畸形均位于动脉病变同侧。97%的病例累及额颞部和/或下颌面段，但未发现动脉病变位置与血管畸形部位之间存在其他特定关联。所有后颅窝异常的病例均存在 ICA 异常或胚胎性颈内-基底动脉连接持续存在。
PHACE 综合征的动脉病变常累及 ICA 及其胚胎分支，位于皮肤血管畸形同侧，以发育不良和异常动脉走行为最常见的异常。脑异常也通常位于同侧。
