Kim Do-Hyun, Choi Jang Hwan, Lee Jung Ha, Kim Hee Sup
Department of Pediatrics, Dongguk University Ilsan Hospital, Goyang, Korea.
Korean J Pediatr. 2012 Jan;55(1):29-33. doi: 10.3345/kjp.2012.55.1.29. Epub 2012 Jan 31.
PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.
PHACE综合征是一种罕见的神经皮肤疾病，其特征为面部血管瘤与一系列后颅窝畸形、动脉脑血管异常、心血管异常及眼部异常相关。我们报告了1例早产儿PHACE综合征病例，该患儿有面部、颅内及口咽血管瘤，伴有Dandy-Walker变异型证据及复杂的心血管异常，包括右侧主动脉弓和起源于迂曲左锁骨下动脉的非典型动脉导管未闭。据我们所知，颅内血管瘤在PHACE综合征中罕见，且PHACE综合征文献中此前未报道过合并口咽血管瘤的情况。对于出现大面积斑块状面部血管瘤的婴儿，进行积极的心血管和神经学评估很重要。应特别注意喉镜检查，以寻找气道内的其他血管瘤。
