Höblinger Aksana, Weber Stephanie, Tschirner Florian, Kröber Stefan, Streetz Konrad
Klinik für Innere Medizin - Gastroenterologie, Diabetologie und Endokrinologie, Kemperhof Koblenz, Gemeinschaftsklinikum Mittelrhein.
Klinik für diagnostische und interventionelle Radiologie, Kemperhof Koblenz, Gemeinschaftsklinikum Mittelrhein.
Z Gastroenterol. 2017 Jul;55(7):667-674. doi: 10.1055/s-0043-109025. Epub 2017 Jul 14.
Leptomeningeal carcinomatosis is a rare but serious complication of solid tumors such as melanoma, breast and lung cancer, as well as gastrointestinal carcinomas. Its clinical manifestation is highly variable, presenting as radicular pain with or without neurological deficits, as well as with headaches and hallucinatory irritation symptoms. Leptomeningeal carcinomatosis is often misdiagnosed, which delays treatment. Here we report a rare case of a patient with BRAF-mutated microsatellite stable colon carcinoma with lymphatic and skeletal metastases, who developed neurological symptoms one month after the initial diagnosis of malignancy. Based on the cytological detection of tumor cells in the cerebrospinal fluid, a leptomeningeal carcinomatosis was diagnosed, despite normal findings on MRI. Intrathecal chemotherapy with methotrexate, combined with intensive systemic immunochemotherapy, resulted in a good partial remission of the underlying malignant disease. However, approximately 8 months after the start of therapy, the patient developed progressive leptomeningeal carcinomatosis and died a few weeks later.
柔脑膜癌病是黑色素瘤、乳腺癌、肺癌以及胃肠道癌等实体瘤罕见但严重的并发症。其临床表现高度多变，可表现为伴有或不伴有神经功能缺损的神经根性疼痛，以及头痛和幻觉刺激症状。柔脑膜癌病常被误诊，从而延误治疗。在此，我们报告一例罕见病例，患者为BRAF基因变异的微卫星稳定型结肠癌伴淋巴和骨骼转移，在初次诊断为恶性肿瘤1个月后出现神经症状。尽管MRI检查结果正常，但基于脑脊液中肿瘤细胞的细胞学检测，诊断为柔脑膜癌病。鞘内注射甲氨蝶呤化疗，联合强化全身免疫化疗，使潜在的恶性疾病获得了良好的部分缓解。然而，在治疗开始约8个月后，患者出现进行性柔脑膜癌病，并在几周后死亡。
