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一名患有索托斯综合征的儿科患者的行为变化:一个强调协调护理重要性的病例

Behavioral Changes in a Pediatric Patient With Sotos Syndrome: A Case Emphasizing the Importance of Coordinated Care.

作者信息

Hichkad Tristan, Guld Emma E, Assi Gabriella

机构信息

Research, Lake Erie College of Osteopathic Medicine, Bradenton, USA.

Pediatrics, Lake Erie College of Osteopathic Medicine, Bradenton, USA.

出版信息

Cureus. 2024 Aug 3;16(8):e66093. doi: 10.7759/cureus.66093. eCollection 2024 Aug.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5360/11368252/39e39584bb6b/cureus-0016-00000066093-i01.jpg

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