Gama Ivo, Almeida Leonor
Ophthalmology Department, University Hospital Santa Maria, North Lisbon Hospital Center, Lisbon, Portugal.
Medical Faculty of Lisbon, University of Lisbon, Lisbon, Portugal.
BMJ Case Rep. 2017 Jan 30;2017:bcr2016217974. doi: 10.1136/bcr-2016-217974.
A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.
一名36岁女性，有皮肤乳头状瘤病和甲状腺癌病史，出现头痛、短暂视力模糊和恶心症状。眼底检查显示视乳头水肿。磁共振成像（MRI）显示右小脑半球有一个肿瘤，呈条纹状、虎斑样模式，这是Lhermitte-Duclos病（LDD）的典型表现。手术后临床和视野检查有显著改善，随访未发现肿瘤复发。LDD是后颅窝肿瘤极为罕见的鉴别诊断。LDD和甲状腺癌病史使我们诊断为考登综合征（CS）。我们展示了一个临床病例，支持基于MRI特征进行LDD术前诊断的可能性。我们回顾了LDD和CS的诊断及管理。本报告强调了在LDD诊断后排除CS的重要性、术后使用光学相干断层扫描监测视神经的重要性以及及时治疗可能预防视力功能丧失的重要性。
