Recht Hannah S, Fishman Elliot K
The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 601 N. Caroline St., Baltimore, MD 21287 USA.
Radiol Case Rep. 2020 Sep 2;15(11):2071-2075. doi: 10.1016/j.radcr.2020.08.002. eCollection 2020 Nov.
Carney-Stratakis syndrome is a rare, distinct dyad of familial paraganglioma and gastrointestinal stromal tumor, and is associated with germline mutations in the succinate dehydrogenase genes SDHB, SDHC, and SDHD. We present a unique case of a 45-year-old woman with Carney-Stratakis syndrome who initially presented with a palpable left neck mass. Further workup demonstrated 2 paragangliomas in the neck and multiple SDHB deficient gastrointestinal stromal tumors of the stomach. We describe the imaging findings and clinical course of this rare syndrome.
卡尼-斯特拉塔基斯综合征是一种罕见的、独特的家族性副神经节瘤和胃肠道间质瘤组合，与琥珀酸脱氢酶基因SDHB、SDHC和SDHD的种系突变有关。我们报告了一例45岁患有卡尼-斯特拉塔基斯综合征的女性的独特病例，该患者最初表现为左侧颈部可触及肿块。进一步检查发现颈部有2个副神经节瘤和多个胃的SDHB缺陷型胃肠道间质瘤。我们描述了这种罕见综合征的影像学表现和临床过程。
