From the Departments of Nuclear Medicine, and.
Clin Nucl Med. 2018 Oct;43(10):e355-e356. doi: 10.1097/RLU.0000000000002248.
A 62-year-old woman, with the history of breast and colorectal cancer, presented intermittent diplopia. A cerebellar lesion was revealed by F-FDG PET-MRI without post-gadolinium enhancement, but with increased perfusion and strong F-FDG uptake. The diagnosis of Cowden syndrome with PTEN gene mutation, linked to higher risk of neoplasia and occurrence of hamartomatous lesions characteristic of the Lhermitte-Duclos disease (LDD), was confirmed by genetic investigation.
一位 62 岁女性，有乳腺癌和结直肠癌病史，表现为间歇性复视。F-FDG PET-MRI 显示小脑病变，无钆后增强，但灌注增加，FDG 摄取强烈。通过基因研究证实了伴有 PTEN 基因突变的考登综合征的诊断，该综合征与更高的肿瘤风险相关，并发生具有 Lhermitte-Duclos 病（LDD）特征的错构瘤病变。
