Imrani Kaoutar, El Haddad Siham, Allali Nazik, Chat Latifa
Radiology department, Pediatric teaching hospital-Mohammed V University-Rabat-Morocco, Rabat, Morocco.
Radiol Case Rep. 2021 Oct 14;16(12):3882-3886. doi: 10.1016/j.radcr.2021.09.023. eCollection 2021 Dec.
PHACE(S) syndrome combines: posterior fossa brain malformations, face hemangioma, arterial cerebrovascular abnormalities, cardiovascular abnormalities, eye abnormalities, and ventral developmental defects (Sternal defects or supra-umbilical rope). The diagnosis is based on the association of an infant hemangioma exceeding 5cm in size on the face, neck, scalp with 1 major criteria or 2 minor criteria. Imaging, especially Gadolinium MRI and MRA of the brain, neck, and aortic arch, transthoracic echocardiography, or even cardiac MRI play a key role in the detection of associated neurological and cardiovascular abnormalities. We report 2 cases of PHACE syndrome revealed by 2 different clinical presentations.
PHACE(S)综合征包括:后颅窝脑畸形、面部血管瘤、动脉脑血管异常、心血管异常、眼部异常和腹部发育缺陷(胸骨缺陷或脐上索带)。诊断基于面部、颈部、头皮上大小超过5cm的婴儿血管瘤与1项主要标准或2项次要标准的关联。影像学检查,尤其是脑部、颈部和主动脉弓的钆增强磁共振成像(MRI)和磁共振血管造影(MRA)、经胸超声心动图,甚至心脏MRI在检测相关神经和心血管异常方面起着关键作用。我们报告2例由2种不同临床表现揭示的PHACE综合征病例。