Aljneibi Shaikha H, Aldhanhani Aisha A, Abuhaleeqa Khaled, Pichi Francesco
Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates.
Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Case Rep Ophthalmol. 2023 Jul 7;14(1):282-287. doi: 10.1159/000530036. eCollection 2023 Jan-Dec.
The aim of the study was to report a case of orbital perivascular epithelioid cell tumor (PEComa) in a known diagnosed patient of tuberous sclerosis and retinal astrocytic hamartoma. 43-year-old female presented with rapid progressive painful proptosis in the left eye, also reported new mass growing in her upper back. The patient past medical history is significant for left renal angiomyolipoma and multiple bilateral lung cysts of which she underwent right nephrectomy and lung biopsy, respectively. The lung biopsy turned diagnostic for lymphangiomyomatosis. On external examination, the left eye was grossly proptotic with hypoglobus. A typical butterfly distribution of sebaceous adenoma was noted across the patient cheeks and nose. Visual acuity in the right eye was 20/20 and the left eye, 20/25. Funduscopic examination identified type 1, 2, and 3 retinal astrocytic hamartomas. MRI brain and orbit was significant for a lesion arising from the lateral orbital wall with extensive bone destruction, displacing the left optic nerve medially. CT chest showed left extrathoracic mass had same radiological features as the orbital lesion; thus, an incisional biopsy performed on the former was diagnostic for PEComa with atypical features. This is the first observed case of PEComa in a known diagnosed patent with TS and retinal astrocytic hamartoma. The association of tuberous sclerosis complex and orbital PEComa is rarely and poorly reported in the literature compared to extraocular PEComa.
本研究的目的是报告1例患有结节性硬化症和视网膜星形细胞错构瘤的确诊患者发生眼眶血管周上皮样细胞瘤（PEComa）的病例。一名43岁女性因左眼迅速进展的疼痛性眼球突出就诊，还报告其背部上方有新肿物生长。该患者既往病史包括左肾血管平滑肌脂肪瘤和双侧多发肺囊肿，她分别接受了右肾切除术和肺活检。肺活检诊断为淋巴管平滑肌瘤病。体格检查时，左眼明显眼球突出且眼球下转。在患者的脸颊和鼻子上可见典型的皮脂腺腺瘤蝶形分布。右眼视力为20/20，左眼视力为20/25。眼底检查发现1型、2型和3型视网膜星形细胞错构瘤。头颅和眼眶MRI显示有一个起源于眶外侧壁的病变，伴有广泛骨质破坏，将左侧视神经向内移位。胸部CT显示左侧胸壁肿物与眼眶病变具有相同的影像学特征；因此，对前者进行的切开活检诊断为具有非典型特征的PEComa。这是首例在已知患有结节性硬化症和视网膜星形细胞错构瘤的确诊患者中观察到的PEComa病例。与眼外PEComa相比，结节性硬化症复合体与眼眶PEComa的关联在文献中报道较少且不充分。
