Division of Plastic Surgery, Wright State University Boonshoft School of Medicine.
Department of Plastic Surgery, Dayton Children's Hospital, Dayton, OH.
J Craniofac Surg. 2021 Sep 1;32(6):e587-e589. doi: 10.1097/SCS.0000000000007781.
Noonan syndrome is a rare, autosomal dominant disorder encompassing multiple congenital defects, as well as association with solid tumor and lesion development. The authors present a 26-year-old female with known Noonan syndrome and ongoing complaint of worsening unilateral vision, progressing to vision loss due to lesion mass effect. Decompressive surgery was performed, restoring patient's vision to baseline immediately postoperative. The lesion was confirmed to be giant cell granuloma. In this paper we discuss the unique presentation of vision loss due to orbital giant cell granuloma in Noonan syndrome with postoperative return of vision; the importance of a multi-disciplinary team evaluation, thorough preoperative clinical and image-based work up, intraoperative findings, postoperative outcome, and complexity of definitive management.
努南综合征是一种罕见的常染色体显性遗传病,包括多种先天性缺陷,以及与实体瘤和病变发展的关联。作者介绍了一位 26 岁的女性,已知患有努南综合征,并持续抱怨单侧视力恶化,因病变的肿块效应导致视力丧失。进行了减压手术,术后患者的视力立即恢复到基线水平。病变被确认为巨细胞肉芽肿。本文讨论了由于努南综合征眼眶巨细胞肉芽肿导致的视力丧失的独特表现,以及术后视力恢复的情况;多学科团队评估、术前全面的临床和基于图像的检查、术中发现、术后结果以及明确治疗的复杂性的重要性。