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探索关联:斯特奇-韦伯综合征与垂体大腺瘤:一例病例报告及文献综述

Exploring the link: Sturge-Weber syndrome and pituitary macroadenomas: A case report and review.

作者信息

Hashmi Razi, Elmeligy Mohamed, Fabian Daniel, Mahtani Arun, Farid Meena, Kinfe Meheret, Karroum Paul, Piccione GianPaolo, Mahmoud Mahmoud, Albakri Mohamed, Padda Inderbir

机构信息

Department of Internal Medicine, Richmond University Medical Center/Mount Sinai, Staten Island, NY, USA.

Department of Medicine, American University of Antigua, Staten Island, NY, USA.

出版信息

Radiol Case Rep. 2024 Aug 18;19(11):5007-5012. doi: 10.1016/j.radcr.2024.07.115. eCollection 2024 Nov.

Abstract

Sturge-Weber syndrome (SWS) is a rare congenital disorder marked by facial port-wine birthmarks, neurological impairments, and ocular anomalies. Our case report describes a 20-year-old man with SWS who presented with right-sided weakness, slurred speech, and oral dyskinesia. Laboratory studies demonstrated elevated prolactin levels, and imaging confirmed a pituitary macroadenoma. While not well-documented, the association between SWS and pituitary macroadenomas is emerging based on current evidence. The potential link may involve embryological, genetic, or hormonal factors influencing the simultaneous development of these conditions. This case highlights the need for a thorough evaluation in patients with SWS, incorporating both neuroimaging and endocrine assessments to manage associated complications effectively. Further research is necessary to investigate the link between SWS and pituitary tumors. Establishing evidence-based guidelines for the screening and management of these patients will improve outcomes and provide a standardized approach to care.

摘要

斯特奇-韦伯综合征(SWS)是一种罕见的先天性疾病,其特征为面部葡萄酒色斑、神经功能障碍和眼部异常。我们的病例报告描述了一名20岁患有SWS的男性,他出现右侧肢体无力、言语含糊和口腔运动障碍。实验室检查显示催乳素水平升高,影像学检查证实有垂体大腺瘤。虽然相关记录不多,但根据目前的证据,SWS与垂体大腺瘤之间的关联正在显现。潜在的联系可能涉及影响这些疾病同时发生发展的胚胎学、遗传学或激素因素。该病例强调了对SWS患者进行全面评估的必要性,包括神经影像学和内分泌评估,以有效管理相关并发症。有必要进一步研究SWS与垂体肿瘤之间的联系。制定基于证据的这些患者筛查和管理指南将改善治疗效果,并提供标准化的护理方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81ad/11378102/10bcb52b3b08/gr1.jpg

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