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一名患有脑部结构畸形儿童的PHACE综合征

PHACE Syndrome in a Child with Structural Malformations of the Brain.

作者信息

Aygünes Utku, Dogan Melih Timucin, Keceli Avni Merter

机构信息

Department of Pediatric Hematology and Oncology, Konya Training and Research Hospital, Konya, Turkey.

Department of Pediatric Cardiology, Konya Training and Research Hospital, Konya, Turkey.

出版信息

J Pediatr Genet. 2020 Jul 23;10(4):315-318. doi: 10.1055/s-0040-1714066. eCollection 2021 Dec.

Abstract

PHACE syndrome is an acronym that describes a neurocutaneous condition, consisting of posterior fossa malformations that coexist with large facial hemangiomas, eye anomalies, and cardiac/aortic defects. The prognosis of the disease has not been clearly identified. There appears to be a risk of stroke in children with arterial anomalies. Radiological examinations play a considerable role in determining the degree of intracranial, cardiac involvement and the probable complications. In this article, we reported a 4-month-old boy with PHACE syndrome that has been diagnosed through a large segmental infantile hemangioma involving the eye and over the left half of the face in brain magnetic resonance imaging and magnetic resonance angiography findings. One month after starting propranolol therapy, there was a noticeable reduction in the size of the lesions. Almost complete resolution of the hemangioma was seen after a 6 months of propranolol therapy.

摘要

PHACE综合征是一个首字母缩略词,用于描述一种神经皮肤疾病,它由后颅窝畸形与大型面部血管瘤、眼部异常以及心脏/主动脉缺陷并存组成。该疾病的预后尚未明确确定。患有动脉异常的儿童似乎存在中风风险。放射学检查在确定颅内、心脏受累程度以及可能的并发症方面起着相当重要的作用。在本文中,我们报告了一名4个月大患有PHACE综合征的男孩,通过脑部磁共振成像和磁共振血管造影检查发现,其眼部及左侧面部有大片节段性婴儿血管瘤,从而确诊该疾病。开始使用普萘洛尔治疗一个月后,病变大小明显缩小。经过6个月的普萘洛尔治疗后,血管瘤几乎完全消退。

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本文引用的文献

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PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.PHACE综合征:基于共识的诊断与护理建议
J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19.
5
Oral Propranolol for Infantile Hemangioma.口服普萘洛尔治疗婴幼儿血管瘤
N Engl J Med. 2015 Jul 16;373(3):284-5. doi: 10.1056/NEJMc1503811.
8
Risk for PHACE syndrome in infants with large facial hemangiomas.婴儿面部大血管瘤存在 PHACE 综合征风险。
Pediatrics. 2010 Aug;126(2):e418-26. doi: 10.1542/peds.2009-3166. Epub 2010 Jul 19.
9
PHACES syndrome: a review.PHACES综合征:综述
Int J Pediatr Otorhinolaryngol. 2009 Feb;73(2):181-7. doi: 10.1016/j.ijporl.2008.10.017. Epub 2008 Dec 19.
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Propranolol for severe hemangiomas of infancy.普萘洛尔治疗婴儿重症血管瘤。
N Engl J Med. 2008 Jun 12;358(24):2649-51. doi: 10.1056/NEJMc0708819.

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