Assari Raheleh, Ziaee Vahid, Moghimi Sasan, Akbari Mohammad Reza, Mirmohammadsadeghi Arash
Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
J Curr Ophthalmol. 2016 Dec 27;29(2):136-138. doi: 10.1016/j.joco.2016.10.005. eCollection 2017 Jun.
To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations.
A 6-month-old girl was referred with large hemangiomas on the left side of the face.
In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen. Morning glory disk anomaly was seen in the left fundus. Intraocular pressure (IOP) was 28 mmHg in the right eye and 15 mmHg in the left eye. Brain computed tomography (CT) scan demonstrated Dandy-Walker malformation. In the CT angiography of the thoracic arteries, coarctation of aorta in descending part, the aberrant origin of the left subclavian artery from the end of the aortic arch, and anomalous origin of the left vertebral artery from the posterior aspect of the aortic arch were found. Therefore, the presence of large facial hemangioma, posterior fossa anomaly, aortic arch anomalies, and morning glory disk confirmed the diagnosis of PHACE(S) syndrome. Propranolol (0.5 mg/kg/day) was initiated to treat hemangioma and coarctation of aorta. Due to uncontrolled glaucoma, goniotomy was performed in the right eye 3 months after the first visit. One year after the initial visit, the hypotropia and esotropia of the right eye considerably decreased.
To our knowledge, this report was the first report of a pattern like Brown's syndrome (may be called apparent Brown's syndrome) and the second report of the congenital glaucoma in a case of PHACE(S) syndrome. In addition, the anomalous origin of the vertebral artery from the aortic arch has not been reported in the PHACE(S) syndrome. Thus, the clinicians should perform the glaucoma work-up for each patient with this syndrome.
描述一名患有PHACE(S)综合征[后颅窝异常(P)、血管瘤(H)、动脉异常(A)、心脏异常及主动脉缩窄(C)、眼部异常(E)和胸骨缺损(S)]的婴儿，伴有不寻常的斜视、先天性青光眼及新的全身表现。
一名6个月大的女孩因左侧面部巨大血管瘤前来就诊。
眼部检查发现右眼内斜视和下斜视，右眼内收时上转受限。左眼眼底可见牵牛花综合征视盘异常。右眼眼压为28 mmHg，左眼眼压为15 mmHg。脑部计算机断层扫描(CT)显示丹迪-沃克畸形。在胸段动脉CT血管造影中，发现降主动脉缩窄、左锁骨下动脉自主动脉弓末端异常起源以及左椎动脉自主动脉弓后方异常起源。因此，面部巨大血管瘤、后颅窝异常、主动脉弓异常及牵牛花综合征视盘的存在确诊为PHACE(S)综合征。开始使用普萘洛尔(0.5 mg/kg/天)治疗血管瘤和主动脉缩窄。由于青光眼未得到控制，初诊3个月后右眼行前房角切开术。初诊1年后，右眼的下斜视和内斜视明显减轻。
据我们所知，本报告是PHACE(S)综合征中首例类似布朗综合征(可称为表观布朗综合征)的报道，也是先天性青光眼的第二例报道。此外，PHACE(S)综合征中尚未有椎动脉自主动脉弓异常起源的报道。因此，临床医生应对每例该综合征患者进行青光眼检查。
