Rokugo Yuka, Ota Chiharu, Kimura Masato, Sasahara Yoji
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
BMJ Case Rep. 2019 Apr 29;12(4):e228117. doi: 10.1136/bcr-2018-228117.
PHACES syndrome is an uncommon neurocutaneous disorder first identified in 1996. Patients with PHACES syndrome often require surgical treatment for their anomalies, including intracranial vasculopathy, coarctation/interruption of the aorta, intracardiac defects, glaucoma/cataract and sternal defects. Risk factors associated with the symptoms of intraoperative/perioperative management include ischaemic stroke due to the cerebral vasculopathy, airway obstruction due to the subglottic/tracheal haemangiomas and massive bleeding due to the large haemangiomas. Recently, propranolol is considered as first-line therapy for patients with infantile haemangiomas (IHs). However, until now, there have been no reported cases of PHACES syndrome treated by propranolol to reduce the surgical risks associated with IH. In this report, we describe a case of a 14-month-old Japanese girl with PHACES syndrome treated by propranolol for IH before surgical closure of the ventricular septum defect. Oral administration of propranolol was effective in decreasing the size of IH, leading to the uneventful perioperative course.
PHACES综合征是一种1996年首次发现的罕见神经皮肤疾病。PHACES综合征患者常因其异常情况需要手术治疗，这些异常包括颅内血管病变、主动脉缩窄/中断、心内缺损、青光眼/白内障和胸骨缺损。与术中/围手术期管理症状相关的危险因素包括脑血管病变导致的缺血性中风、声门下/气管血管瘤导致的气道梗阻以及大血管瘤导致的大量出血。最近，普萘洛尔被认为是婴儿血管瘤（IH）患者的一线治疗药物。然而，迄今为止，尚无关于使用普萘洛尔治疗PHACES综合征以降低与IH相关手术风险的报道病例。在本报告中，我们描述了一名14个月大的日本女孩，患有PHACES综合征，在手术闭合室间隔缺损前使用普萘洛尔治疗IH。口服普萘洛尔有效减小了IH的大小，使围手术期过程顺利。
