Ninclaus Virginie G S, Walraedt Sophie, Baert Edward, Laureys Geneviève, Leroy Bart P, De Zaeytijd Julie
Department of Ophthalmology, Ghent University Hospital & Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Department of Neurosurgery, Ghent University Hospital & Ghent University, Ghent, Belgium.
Int Ophthalmol. 2017 Feb;37(1):275-278. doi: 10.1007/s10792-016-0246-z. Epub 2016 May 3.
To describe a patient with diplopia who was diagnosed with Turcot syndrome.
A 10-year-old boy presented with a history of left-sided sixth and seventh nerve palsy. He underwent imaging of the brain and colon, a full ophthalmological and genetic work-up.
A 10-year-old boy was referred with combined left-sided sixth and seventh nerve palsy since 1 month without symptoms of raised intracranial pressure. BCVA was 6/6 in both eyes. Fundoscopy revealed bilateral, multiple, oval pigmented ocular fundus lesions (POFLs) in the 4 quadrants. These POFLs, together with the cranial nerve palsies raised the suspicion of Turcot syndrome, a familial neoplasia syndrome characterized by familial colorectal cancer and tumours of the central nervous system. Urgent MRI scan of the brain and stereotactic biopsy showed a primitive neuroectodermal tumour (PNET) at the pons. Coloscopy revealed multiple polyps. DNA analysis of the APC gene confirmed the clinical diagnosis of Turcot syndrome. The PNET was treated with combined radio- and chemotherapy. The patient underwent a prophylactic total colectomy as virtually all patients develop a carcinoma of the colorectal region if left untreated.
Although strabismus is not, diplopia in childhood is rare and seldom innocuous. It requires a prompt and thorough diagnostic evaluation, including thorough, dilated fundoscopy. The presence of POFLs combined with neurological symptoms suggestive of a brain tumour should alert the clinician of the possibility of Turcot syndrome. Recognition of this rare syndrome can lead to earlier diagnosis, which is vital for appropriate surveillance and early surgical intervention of the highly frequent neoplasias in Turcot Syndrome.
描述一名被诊断为Turcot综合征的复视患者。
一名10岁男孩有左侧第六和第七脑神经麻痹病史。他接受了脑部和结肠成像、全面的眼科及遗传学检查。
一名10岁男孩因左侧第六和第七脑神经联合麻痹被转诊，病程1个月，无颅内压升高症状。双眼最佳矫正视力均为6/6。眼底镜检查发现双眼四个象限有双侧、多个、椭圆形色素性眼底病变（POFLs）。这些POFLs以及脑神经麻痹引发了对Turcot综合征的怀疑，Turcot综合征是一种家族性肿瘤综合征，其特征为家族性结直肠癌和中枢神经系统肿瘤。脑部紧急MRI扫描和立体定向活检显示脑桥有原始神经外胚层肿瘤（PNET）。结肠镜检查发现多个息肉。APC基因的DNA分析证实了Turcot综合征的临床诊断。PNET接受了放疗和化疗联合治疗。由于几乎所有患者若不治疗都会发展为结直肠区域癌，该患者接受了预防性全结肠切除术。
虽然斜视并非如此，但儿童期复视很少见且很少无害。它需要迅速而全面的诊断评估，包括彻底的散瞳眼底镜检查。POFLs的存在与提示脑肿瘤的神经症状相结合，应提醒临床医生注意Turcot综合征可能性。认识到这种罕见综合征可导致早期诊断，这对于Turcot综合征中高发肿瘤的适当监测和早期手术干预至关重要。
