Hichkad Tristan, Guld Emma E, Assi Gabriella
Research, Lake Erie College of Osteopathic Medicine, Bradenton, USA.
Pediatrics, Lake Erie College of Osteopathic Medicine, Bradenton, USA.
Cureus. 2024 Aug 3;16(8):e66093. doi: 10.7759/cureus.66093. eCollection 2024 Aug.
Sotos syndrome is a rare overgrowth condition characterized by tall stature, distinctive facial features, and learning disabilities. It is primarily caused by a microdeletion of the nuclear receptor-binding set domain protein 1 (NSD1) gene on chromosome 5q35. Patients often present with various clinical manifestations, including tall stature, precocious puberty, cardiac anomalies, and mild intellectual disability. Management of Sotos syndrome involves a multidisciplinary approach due to its complex nature and potential comorbidities. This case discusses the management of a 10-year-old female with a known gene mutation consistent with Sotos syndrome that presented to the clinic with behavioral changes, and highlights the importance of integrated care models when addressing complex clinical scenarios.
索托斯综合征是一种罕见的过度生长疾病,其特征为身材高大、独特的面部特征和学习障碍。它主要由5号染色体q35区域的核受体结合SET结构域蛋白1(NSD1)基因的微缺失引起。患者常出现各种临床表现,包括身材高大、性早熟、心脏异常和轻度智力残疾。由于索托斯综合征的复杂性和潜在的合并症,其管理需要多学科方法。本病例讨论了一名10岁女性的管理情况,该女性已知存在与索托斯综合征一致的基因突变,因行为改变前来就诊,并强调了在处理复杂临床情况时综合护理模式的重要性。