Al-Abdulwahhab Abdulrahman Hamad, Al-Sharydah AbdulAziz Mohammad, Al-Suhibani Sari Saleh, Al-Shayji Hadeel, Al-Saad Ibtihal, Al-Issawi Wissam
Diagnostic and Interventional Radiology Department.
Neurosurgery Department, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, Saudi Arabia.
Medicine (Baltimore). 2020 Jan;99(3):e18783. doi: 10.1097/MD.0000000000018783.
Primary melanin-producing tumors are rare extra-axial neoplasms OPEN of the central nervous system. In the literature, few case reports have discussed neoplasms involving the cavernous sinus; of these, only 4 have reported on neoplasms originating in Meckel cave. The diagnostic approach, including clinical and radiological analysis, is challenging, and cytopathological assessment with a molecular basis is the best approach to discriminate between these lesions. Herein, we discuss the pathophysiology, diagnostic approach, intraoperative features, and postoperative management in a unique case of primary pigmented meningeal melanocytoma originating in Meckel cave in a patient who was diagnosed with Carney complex (CCx) and sickle cell disease (SCD).
A 23-year-old man diagnosed with SCD had also been diagnosed previously with CCx, without any familial history or neurocutaneous melanosis. He had experienced headaches accompanied by left facial pain and paresthesia for 2 months.
The initial computed tomography scan and magnetic resonance imaging (MRI) revealed a mass arising from the left Meckel cave. On MRI, it followed the signal intensity of melanin. He underwent subtotal resection of the mass. Considering the patient's history of CCx, melanocytic schwannoma was the most relevant diagnosis. A postoperative histopathological examination was suggestive of benign pigmented meningeal melanocytoma.
The patient underwent an uneventful subtotal resection of the mass through a left temporal linear incision.
The patient showed progressive improvement of neurologic deficits, and after 2 years of follow-up, he did not present with any new complaints.
To the best of our knowledge, this is the first report of the unusual presentation of both SCD, as well as of primary pigmented meningeal melanocytoma in a patient with CCx. Complete surgical resection can be curative in most cases of melanocytoma. The presence of CCx with SCD suggests potential shared genetic contributions that will require further exploration.
原发性产生黑色素的肿瘤是中枢神经系统罕见的轴外肿瘤。在文献中，很少有病例报告讨论累及海绵窦的肿瘤；其中，仅有4例报告了起源于梅克尔腔的肿瘤。包括临床和放射学分析在内的诊断方法具有挑战性，基于分子基础的细胞病理学评估是区分这些病变的最佳方法。在此，我们讨论了一例起源于梅克尔腔的原发性色素性脑膜黑素细胞瘤的独特病例的病理生理学、诊断方法、术中特征及术后管理，该患者被诊断患有卡尼综合征（CCx）和镰状细胞病（SCD）。
一名23岁被诊断患有SCD的男性此前也被诊断患有CCx，无任何家族病史或神经皮肤黑素沉着病。他经历了2个月的头痛，伴有左侧面部疼痛和感觉异常。
最初的计算机断层扫描和磁共振成像（MRI）显示左侧梅克尔腔有一肿块。在MRI上，其信号强度与黑色素一致。他接受了肿块次全切除。考虑到患者的CCx病史，黑素细胞性神经鞘瘤是最相关的诊断。术后组织病理学检查提示为良性色素性脑膜黑素细胞瘤。
患者通过左侧颞部直线切口顺利接受了肿块次全切除。
患者神经功能缺损逐渐改善，经过2年随访，未出现任何新的不适。
据我们所知，这是首例关于SCD以及CCx患者原发性色素性脑膜黑素细胞瘤异常表现的报告。在大多数黑素细胞瘤病例中，完整的手术切除可治愈疾病。CCx与SCD并存提示可能存在共同的遗传因素，有待进一步探索。
