Orbital Perivascular Epithelioid Cell Tumor in a Case of Tuberous Sclerosis.
| Autor: | Aljneibi SH; Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates., Aldhanhani AA; Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates., Abuhaleeqa K; Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates.; Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA., Pichi F; Cleveland Clinic AbuFcoi Dhabi, Eye Institute, Abu Dhabi, United Arab Emirates.; Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Case reports in ophthalmology [Case Rep Ophthalmol] 2023 Jul 07; Vol. 14 (1), pp. 282-287. Date of Electronic Publication: 2023 Jul 07 (Print Publication: 2023). |
| DOI: | 10.1159/000530036 |
| Abstrakt: | 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. Competing Interests: The following authors have no financial disclosures: S.H.A., A.A.A., K.A., and F.P. (© 2023 The Author(s). Published by S. Karger AG, Basel.) |
| Databáze: | MEDLINE |
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