The aim of this study was to evaluate a patient with von Hippel-Lindau (VHL) syndrome and to discuss the clinical manifestations. A 25-year-old woman presented to our clinic with blurred vision for 2 months. Best corrected visual acuity in right eye was 20/50, and fundoscopic examination revealed juxtapapillary endophytic retinal capillary hemangioma. Examination findings on left eye were normal. On optical coherence tomography, exudation was prominent on macula. History revealed cerebellar operation because of cerebellar hemangioblastoma. On abdominal ultrasonography, liver hemangiomas and pancreatic cysts were seen, confirmed by abdominal computerized tomography (CT). Abdominal CT imaging also revealed nutcracker phenomenon. Transthoracic echocardiography showed atrial septal aneurysm without shunt. The patient refused ocular treatment. At 3-month control, ophthalmic findings were the same. To our knowledge, this is the first case of VHL disease reported to be associated with nutcracker phenomenon and atrial septal aneurysm. Systemic evaluation and regular follow-up should be recommended to subjects with VHL disease.

译文

这项研究的目的是评估von Hippel-Lindau (VHL) 综合征患者并讨论其临床表现。一名25岁的妇女因视力模糊到我们的诊所就诊了2个月。20/50右眼最佳矫正视力,眼底镜检查发现乳头状内生性视网膜毛细血管血管瘤。左眼检查结果正常。在光学相干断层扫描中,黄斑上渗出明显。病史显示小脑手术是因为小脑血管母细胞瘤。在腹部超声检查中,通过腹部计算机断层扫描 (CT) 证实了肝血管瘤和胰腺囊肿。腹部CT成像也显示胡桃夹子现象。经胸超声心动图显示房间隔动脉瘤无分流。患者拒绝眼部治疗。在3个月的对照中,眼科检查结果相同。据我们所知,这是第一例与胡桃夹子现象和房间隔动脉瘤有关的VHL疾病。应建议对VHL疾病患者进行系统评估和定期随访。

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