Demartini Zeferino, Gatto Luana A M, Lages Roberto Oliver, Francisco Alexandre Novicki, Maeda Adriano Keijiro, Koppe Gelson Luis
Neurosurgery, Cajuru University Hospital, Curitiba,
Interventional Neuroradiology, Hospital Pequeno Principe, Curitiba,
Pediatr Neurosurg. 2018;53(6):421-426. doi: 10.1159/000493491. Epub 2018 Oct 18.
PHACE(S) syndrome is a neurocutaneous syndrome with a wide array of presentations. The most known and present trait is facial hemangioma > 5 cm. The name is an acronym for Posterior fossa malformations, infantile Hemangiomas, Arterial anomalies, aortic Coarctation, Eye abnormalities, and middle-line malformations of the Sternum. The exact etiopathogenic mechanism of this syndrome is not fully understood, and its treatment depends on detailed and individualized assessment. The aim of this paper is to describe a child with a throat hemangioma, vascular malformations, cognitive delay, and other anomalies to illustrate the neuroimaging found in this syndrome.
PHACE(S)综合征是一种具有多种表现的神经皮肤综合征。最广为人知且常见的特征是面部血管瘤大于5厘米。该名称是后颅窝畸形、婴儿血管瘤、动脉异常、主动脉缩窄、眼部异常和胸骨中线畸形的首字母缩写。这种综合征的确切病因机制尚未完全明确，其治疗取决于详细的个体化评估。本文的目的是描述一名患有咽喉部血管瘤、血管畸形、认知延迟及其他异常的儿童，以说明该综合征的神经影像学表现。
