Liu Zhixuan, Yue Ruimin, Sun Cuiyun, Wang Junping
Department of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin, China.
Department of Neuropathology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China.
Front Oncol. 2023 Mar 21;13:1120152. doi: 10.3389/fonc.2023.1120152. eCollection 2023.
Bilateral carotid body tumors with a concomitant skull-base paraganglioma are extremely rare, of which only one case has been reported in the literature to date.
We present the case of a 35-year-old male with 1 year of hypertension and high levels of dopamine and 3-methoxytyramine. Magnetic resonance imaging (MRI) scans demonstrated three separate masses at the left middle cranial fossa floor and bilateral carotid bifurcation. Genetic testing showed succinate dehydrogenase complex subunit D mutation. The patient underwent the resection of the left skull base mass. Histopathology and immunohistochemistry confirmed the presence of a skull-base paraganglioma.
Succinate dehydrogenase complex subunit D mutation-associated bilateral carotid body tumors with a concomitant skull-base paraganglioma accompanied by abnormal dopamine and hypertension are extremely rare, which not only provides ideas for considering the association of gene mutations, biochemical abnormalities and clinical symptoms but also provides an expanded diagnostic spectrum for paraganglioma in atypical locations.
双侧颈动脉体瘤合并颅底副神经节瘤极为罕见，迄今为止文献中仅报道过1例。
我们报告1例35岁男性患者，有1年高血压病史，多巴胺和3-甲氧基酪胺水平升高。磁共振成像（MRI）扫描显示左侧中颅窝底和双侧颈动脉分叉处有3个独立肿块。基因检测显示琥珀酸脱氢酶复合物亚基D突变。患者接受了左侧颅底肿块切除术。组织病理学和免疫组化证实为颅底副神经节瘤。
琥珀酸脱氢酶复合物亚基D突变相关的双侧颈动脉体瘤合并颅底副神经节瘤，伴有多巴胺异常和高血压极为罕见，这不仅为考虑基因突变、生化异常和临床症状之间的关联提供了思路，也为非典型部位的副神经节瘤提供了更广泛的诊断范围。
