Gallagher Julia E, Saeed-Vafa Daryoush, Bui Marilyn M, Makanji Rikesh
Department of Medicine, University of South Florida Health Morsani College of Medicine, Tampa, USA.
Department of Pathology, Moffitt Cancer Center and Research Institute, Tampa, USA.
Cureus. 2024 Aug 20;16(8):e67333. doi: 10.7759/cureus.67333. eCollection 2024 Aug.
Coffin-Siris syndrome (CSS) is a rare genetic condition associated with mutations in genes responsible for the modulation of gene expression and chromatin remodeling. Patients with CSS commonly present with congenital anomalies, intellectual disabilities, and developmental delays. We describe a case of a 28-year-old woman with a confirmed diagnosis of CSS and mutation who presents with multiple schwannomas and an intra-abdominal neurofibroma. The patient underwent embolization and resection of an enlarging, symptomatic schwannoma of her left medial upper arm. In detailing the patient's presentation, this case report underscores the association between mutations, CSS, and tumorigenesis.
科芬-西里斯综合征（CSS）是一种罕见的遗传性疾病，与负责调节基因表达和染色质重塑的基因突变有关。CSS患者通常表现为先天性异常、智力残疾和发育迟缓。我们描述了一例28岁确诊为CSS且有基因突变的女性病例，该患者患有多发性神经鞘瘤和腹腔内神经纤维瘤。患者接受了左侧上臂内侧一个不断增大且有症状的神经鞘瘤的栓塞和切除术。在详细描述患者的表现时，本病例报告强调了基因突变、CSS与肿瘤发生之间的关联。
