一名患有索托斯综合征和注意力缺陷/多动障碍儿童的临床及遗传特征：病例报告
Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder: A case report.
作者信息
Yang Ya-Jing, Li Bei-Yi, Gan Ke-Xin, Liu Jing, Lv Xiu-Qin, Zhang Dong-Mei, Ma Hui-Juan
机构信息
Department of Internal Medicine, North China University of Science and Technology, Tangshan 063000, Hebei Province, China.
Department of Internal Medicine, Hebei Medical University, Shijiazhuang 050017, Hebei Province, China.
出版信息
World J Clin Cases. 2024 Aug 6;12(22):5131-5139. doi: 10.12998/wjcc.v12.i22.5131.
BACKGROUND
Sotos syndrome is an autosomal dominant disorder, whereas attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition. This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.
CASE SUMMARY
The patient presented with accelerated growth and advanced skeletal maturation; however, she lacked any distinct facial characteristics related to specific genetic disorders. Genetic analyses revealed a paternally inherited heterozygous synonymous mutation [c.4605C>T (p.Arg1535Arg)]. Functional analyses suggested that this mutation may disrupt splicing, and bioinformatics analyses predicted that this mutation was likely pathogenic. After an initial diagnosis of Sotos syndrome, the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.
CONCLUSION
The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.
背景
索托斯综合征是一种常染色体显性疾病，而注意力缺陷多动障碍（ADHD）是一种神经发育疾病。本报告旨在总结一名患有性早熟的儿童索罗斯综合征和ADHD病例的临床及遗传特征。
病例摘要
该患者表现为生长加速和骨骼成熟提前；然而，她缺乏与特定遗传疾病相关的任何明显面部特征。基因分析显示一个父系遗传的杂合同义突变[c.4605C>T（p.Arg1535Arg）]。功能分析表明该突变可能破坏剪接，生物信息学分析预测该突变可能具有致病性。在初步诊断为索托斯综合征后，该患者在8岁7个月的随访期间被诊断为ADHD。
结论
应考虑索托斯综合征患者合并ADHD的可能性，以避免漏诊风险。
Zotero 插件