Radiology, University of Wisconsin, Madison, Wisconsin, USA
Medical Physics, University of Wisconsin, Madison, Wisconsin, USA.
BMJ Case Rep. 2020 Sep 14;13(9):e235992. doi: 10.1136/bcr-2020-235992.
PHACE syndrome is a rare disorder with posterior fossa brain malformations, segmental infantile haemangiomas, arterial anomalies, cardiac defects and eye anomalies. Cerebral and cervical arterial abnormalities occur commonly in these patients, predisposing subjects with PHACE syndrome to neurovascular complications including migraine-like headaches, moyamoya vasculopathy, arterial dissection and arterial ischaemia stroke. We leveraged institutional MRI protocols developed for adult neurovascular disease to better elucidate the pathogenesis of the arterial alternations observed in PHACE. Using high-resolution vessel wall and 4D flow MRI, we demonstrated enhancement, focal dissection and altered blood flow in a 7-year-old girl with PHACE syndrome. This is the first-time vessel wall imaging has been used to detail the known arterial changes in PHACE, and these findings may indicate that progressive vascular narrowing and vessel wall changes/inflammation are a factor in chronic headaches and other arterial complications seen in subjects with PHACE syndrome.
PHACE 综合征是一种罕见的疾病，伴有后颅窝脑畸形、节段性婴儿血管瘤、动脉异常、心脏缺陷和眼部异常。这些患者常见脑和颈动脉异常，使 PHACE 综合征患者易发生神经血管并发症，包括偏头痛样头痛、烟雾病样血管病变、动脉夹层和动脉缺血性中风。我们利用为成人神经血管疾病制定的机构 MRI 方案，以更好地阐明在 PHACE 中观察到的动脉改变的发病机制。使用高分辨率血管壁和 4D 血流 MRI，我们在一名 7 岁患有 PHACE 综合征的女孩中证明了增强、局灶性夹层和血流改变。这是首次使用血管壁成像详细描述 PHACE 中的已知动脉变化，这些发现可能表明进行性血管狭窄和血管壁变化/炎症是 PHACE 综合征患者慢性头痛和其他动脉并发症的一个因素。
