一例法斯综合征与获得性垂体功能减退症？

A case of phace syndrome and acquired hypopituitarism?

作者信息

Denzer Friederike, Denzer Christian, Lennerz Belinda S, Bode Harald, Wabitsch Martin

机构信息

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, University Hospital of Ulm, Eythstr, 24, Ulm, D-89075, Germany.

出版信息

Int J Pediatr Endocrinol. 2012 Jun 30;2012(1):20. doi: 10.1186/1687-9856-2012-20.

DOI:10.1186/1687-9856-2012-20

PMID:22747526

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3408334/

Abstract

BACKGROUND

PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large "segmental" facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies.

CASE VIGNETTE

We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI) of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency.

CONCLUSIONS

This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.

摘要

背景

PHACE是一种神经皮肤综合征，与以下情况相关：后颅窝脑畸形、巨大“节段性”面部血管瘤、动脉脑血管、心血管和眼部异常。

病例摘要

我们报告一名患有PHACE综合征的女孩。该患者有先天性右侧面部血管瘤，呈斑块状形态。在11岁2个月时，她出现身材矮小、生长速度明显减慢以及提示甲状腺功能减退的体征和症状。脑部磁共振成像（MRI）显示复杂的结构和脑血管动脉异常，包括空蝶鞍。垂体功能测试显示多种垂体功能障碍，包括绝对生长激素缺乏、低促性腺激素性性腺功能减退、中枢性甲状腺功能减退和继发性肾上腺功能不全。