Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder:A case report  

作　　者：Ya-Jing Yang Bei-Yi Li Ke-Xin Gan Jing Liu Xiu-Qin Lv Dong-Mei Zhang Hui-Juan Ma 

机构地区：[1]Department of Internal Medicine,North China University of Science and Technology,Tangshan 063000,Hebei Province,China [2]Department of Internal Medicine,Hebei Medical University,Shijiazhuang 050017,Hebei Province,China [3]Department of Endocrinology,Hebei General Hospital,Shijiazhuang 050000,Hebei Province,China [4]Department of Endocrinology,The First Hospital of Hebei Medical University,Shijiazhuang 050023,Hebei Province,China

出　　处：《World Journal of Clinical Cases》2024年第22期5131-5139,共9页世界临床病例杂志

摘　　要：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.

关 键 词：Sotos syndrome Attention-deficit/hyperactivity disorder Nuclear receptor binding SET domain protein 1 Case report Developmental disabilities Diagnosis Como rbidity Management 

分 类 号：R749[医药卫生—神经病学与精神病学]