Guchlerner Marina, Pitz Susanne
Orbitazentrum, Bürgerhospital und Clementine Kinderhospital gemeinnützige GmbH, Frankfurt am Main.
Klin Monbl Augenheilkd. 2019 Jan;236(1):31-34. doi: 10.1055/a-0759-2162. Epub 2018 Dec 19.
A 30-year-old male patient presented with a painful globe subluxation of the left eye since two weeks. Painless left proptosis had been noted at least 2 years earlier. An MRI performed one year after onset of symptoms showed a retrobulbar mass, which on biopsy was diagnosed as spindle cell lipoma. Surgical debulking via a transconjunctival approach successfully reduced proptosis; repeated histology with extensive immunohistochemical analysis now led to the diagnosis of a well-differentiated orbital liposarcoma. The patient underwent orbital exenteration and received adjuvant radiotherapy. Genetic testing showed a heterozygote mutation of the ATM-gene on chromosome 11.
一名30岁男性患者，自两周前起出现左眼眼球疼痛性半脱位。至少在两年前就已注意到左侧无痛性眼球突出。症状出现一年后进行的MRI显示球后有一肿块，活检诊断为梭形细胞脂肪瘤。经结膜入路进行手术减瘤成功减轻了眼球突出；反复进行组织学检查并进行广泛的免疫组化分析后，现诊断为高分化眼眶脂肪肉瘤。患者接受了眼眶内容物剜除术并接受了辅助放疗。基因检测显示11号染色体上的ATM基因存在杂合突变。
