Bongsebandhu-Phubhakdi Chansuda, Tempark Therdpong, Jakchairoongruang Ketsuda, Supornsilpchai Vichit
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, 1873 Rama 4 Rd., Pathumwan, Bangkok 10330, Thailand, Phone: +66 2 2564951, Fax: +66 89 1574651, E-mail:
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1283-1286. doi: 10.1515/jpem-2019-0078.
Background PHACE syndrome is a rare vascular neurocutaneous disorder characterized by posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies. Growth hormone deficiency (GHD) has been infrequently described. Case presentation We report a girl with PHACE syndrome. Endocrine abnormalities including abnormal thyroid functions and GHD have recently been described in similar cases. Conclusions This case suggests the necessity to screen pituitary functions in all patients with PHACE syndrome with abnormal hypothalamus and pituitary (HP) anatomy. Likewise, growth parameters and thyroid function test (TFT) should be monitored in all patients with PHACE syndrome at regular intervals.
PHACE综合征是一种罕见的血管神经皮肤疾病，其特征为后颅窝异常、血管瘤、动脉异常、心脏异常和眼部异常。生长激素缺乏症（GHD）鲜有报道。病例报告：我们报告了一名患有PHACE综合征的女孩。近期在类似病例中已描述了包括甲状腺功能异常和GHD在内的内分泌异常情况。结论：该病例提示，对于所有下丘脑和垂体（HP）解剖结构异常的PHACE综合征患者，有必要筛查垂体功能。同样，应对所有PHACE综合征患者定期监测生长参数和甲状腺功能测试（TFT）。
