Giuliari Gian Paolo, Sadaka Ama, Cortez Maria Angelica, Corona Adalgisa
Centro de Cirugía Oftalmológica (CECOF), Caracas, Venezuela.
Case Rep Ophthalmol Med. 2012;2012:509693. doi: 10.1155/2012/509693. Epub 2012 Mar 27.
Purpose. To report an untypical presentation of a presumed Sturge-Weber Syndrome (SWS), and to highlight the indispensable value of thorough clinical examination as primary means for proper diagnosis and management. Methods. Chart review. Results. A 7 year-old boy, with a long history of ocular symptoms and an unspecified ocular surgery, presents with a painful blind left eye. Based on clinical examination, the suspicion of SWS was raised. The presentation was not typical in the sense that no evident port-wine stain was observed on the face. However, facial asymmetry and gum discoloration were guiding clinical clues to pursue further investigations. Unfortunately, due to poor treatment response, the patient underwent enucleation. Tissue pathology revealed diffuse choroidal hemangiomas, consistent with the diagnosis of SWS. Conclusion. SWS presents with hamartomatous malformations and venous dilation affecting the skin, central nervous system and eye. The ocular involvement may vary, with the most common complications being glaucoma, buphthalmos and diffuse choroidal hemangiomas. This case report helps remind physicians of the importance of a thorough clinical examination, and highlights the ophthalmologists' responsibility of examining beyond the eye.
目的。报告一例疑似斯特奇-韦伯综合征（SWS）的非典型表现，并强调全面临床检查作为正确诊断和管理的主要手段所具有的不可或缺的价值。方法。病历回顾。结果。一名7岁男孩，有长期眼部症状病史且曾接受未明确的眼科手术，现因左眼疼痛失明前来就诊。基于临床检查，怀疑为SWS。其表现不典型，因为面部未观察到明显的葡萄酒色斑。然而，面部不对称和牙龈变色是引导进一步检查的临床线索。不幸的是，由于治疗反应不佳，患者接受了眼球摘除术。组织病理学显示弥漫性脉络膜血管瘤，符合SWS的诊断。结论。SWS表现为错构瘤畸形和静脉扩张，累及皮肤、中枢神经系统和眼睛。眼部受累情况可能不同，最常见的并发症是青光眼、牛眼和弥漫性脉络膜血管瘤。本病例报告有助于提醒医生全面临床检查的重要性，并突出眼科医生检查眼部以外部位的责任。
