Moyamoya Center, Division of Pediatric Neurosurgery, University Children's Hospital, Zürich, Switzerland.
Moyamoya Center, Division of Pediatric Neurosurgery, University Children's Hospital, Zürich, Switzerland.
Eur J Paediatr Neurol. 2020 May;26:39-45. doi: 10.1016/j.ejpn.2020.03.003. Epub 2020 Mar 18.
A multidisciplinary approach for PHACES is essential. A meticulous diagnostic and treatment protocol for PHACES patients with cerebrovascular anomalies within the intermediate and high risk strata for ischemic stroke is presented. We also differentiate the vasculopathy associated with PHACES syndrome from moyamoya angiopathy.
Medical records and radiological imaging were reviewed. After initial magnetic resonance imaging/angiography (MRI/MRA), HO-PET scan (baseline and Acetazolamide challenge) was performed in three patients and 6-vessel cerebral angiography was performed in two patients. Two patients with significant intracranial cerebrovascular anomalies underwent cerebral revascularization.
Each patient presented with a facial hemangioma at birth and additional cerebrovascular anomalies ranging from hypoplasia to steno-occlusive changes of intracranial cerebral arteries. Additional involvement of the cardiovascular system was observed in two patients. Additional to MRI/MRA, a HO-PET helped stratify the three patients into intermediate (n=1) and high risk groups (n=2). The high-risk group patients underwent individualized cerebral revascularization for future stroke prevention. The patient in intermediate risk group will be followed. Cerebrovascular angiopathy seen in all patients was typical for PHACES without moyamoya and was not progressive at follow-up.
Patients within the intermediate and high-risk strata for ischemic stroke must undergo a 6-vessel cerebral angiography and further hemodynamic evaluation to indicate need for cerebral revascularization to prevent ischemic stroke. Non-progressive vasculopathy associated with PHACES can itself be hemodynamically relevant for neurosurgical intervention. This vasculopathy is distinct from moyamoya angiopathy, which can occur in conjunction with PHACES, resulting in concurrent progressive vasculopathy that would otherwise be absent.
多学科方法对于 PHACES 至关重要。本文提出了针对存在中等及高危缺血性卒中风险的 PHACES 患者伴脑血管畸形的细致诊断和治疗方案。我们还将 PHACES 综合征相关血管病变与烟雾病进行了区分。
回顾性分析了病历和影像学资料。在初始磁共振成像/血管造影（MRI/MRA）后，对 3 例患者进行了 HO-PET 扫描（基线和乙酰唑胺激发），对 2 例患者进行了 6 血管脑血管造影。2 例存在明显颅内脑血管畸形的患者接受了脑血运重建。
每位患者均在出生时存在面部血管瘤，且伴有不同程度的颅内脑血管发育不良或狭窄-闭塞改变。2 例患者还存在心血管系统受累。除 MRI/MRA 外，HO-PET 还帮助将 3 例患者分为中危（n=1）和高危（n=2）组。高危组患者接受了个体化脑血运重建以预防未来卒中。中危组患者将进行随访。所有患者的脑血管病变均为 PHACES 特征性的，不伴有烟雾病，且在随访中无进展。
对于存在中等及高危缺血性卒中风险的患者，必须进行 6 血管脑血管造影和进一步的血流动力学评估，以确定是否需要脑血运重建来预防缺血性卒中。与 PHACES 相关的非进展性血管病变本身可能与神经外科干预相关。这种血管病变与烟雾病不同，烟雾病可与 PHACES 同时发生，导致同时存在进展性血管病变，否则不会出现这种情况。
