Alhazmi Asma M, Alsubaie Musab A, Alanazi Reem R
Ophthalmology Department, King Fahd Hospital of the University/Imam Abdulrahman Bin Faisal University, Dammam, SAU.
Cureus. 2023 Jun 22;15(6):e40808. doi: 10.7759/cureus.40808. eCollection 2023 Jun.
This case report provides a detailed examination of a rare co-occurrence of Costello syndrome, euryblepharon, and Moyamoya syndrome in a 14-year-old female. Costello syndrome, a rare genetic disorder characterized by developmental delays, distinctive facial characteristics, and a predisposition to certain malignancies, presents an array of ocular manifestations, including downward-slanting palpebral fissures. A significant similarity is noted with euryblepharon, a rare periocular anomaly marked by the downward slanting of the eyelids. Despite these striking resemblances, the association between euryblepharon and Costello syndrome is yet to be documented in the literature. Furthermore, the coexistence of Costello syndrome and Moyamoya syndrome, a cerebrovascular disorder, is exceedingly rare. This report provides an in-depth analysis of the patient's ocular and periocular manifestations, establishing a potential association of euryblepharon within the phenotypic spectrum of Costello syndrome and documenting the unusual co-occurrence with Moyamoya syndrome. These findings aim to augment our understanding of Costello syndrome's phenotypic variability and potential associations.
本病例报告详细研究了一名14岁女性罕见地同时患有科斯特洛综合征、睑裂增宽和烟雾病综合征。科斯特洛综合征是一种罕见的遗传性疾病，其特征为发育迟缓、独特的面部特征以及易患某些恶性肿瘤，还伴有一系列眼部表现，包括睑裂向下倾斜。睑裂增宽是一种罕见的眼周异常，其特征为眼睑向下倾斜，与科斯特洛综合征有显著相似之处。尽管有这些显著的相似性，但睑裂增宽与科斯特洛综合征之间的关联尚未见文献记载。此外，科斯特洛综合征与烟雾病综合征（一种脑血管疾病）同时存在极为罕见。本报告深入分析了患者的眼部和眼周表现，确定了睑裂增宽在科斯特洛综合征表型谱中的潜在关联，并记录了与烟雾病综合征的罕见同时发生情况。这些发现旨在加深我们对科斯特洛综合征表型变异性和潜在关联的理解。
