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©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder: A case report
Ya-Jing Yang, Bei-Yi Li, Ke-Xin Gan, Jing Liu, Xiu-Qin Lv, Dong-Mei Zhang, Hui-Juan Ma
Ya-Jing Yang, Department of Internal Medicine, North China University of Science and Technology, Tangshan 063000, Hebei Province, China
Bei-Yi Li, Department of Internal Medicine, Hebei Medical University, Shijiazhuang 050017, Hebei Province, China
Ke-Xin Gan, Jing Liu, Xiu-Qin Lv, Dong-Mei Zhang, Department of Endocrinology, Hebei General Hospital, Shijiazhuang 050000, Hebei Province, China
Hui-Juan Ma, Department of Endocrinology, The First Hospital of Hebei Medical University, Shijiazhuang 050023, Hebei Province, China
Author contributions: Yang YJ, Li BY, Gan KX, Liu J, Lv XQ, and Zhang DM substantially contributed to the conception, design, and interpretation of the article and carefully revised important substantive content; Liu J and Ma HJ contributed to the final version of the manuscript. All authors have agreed to the publication of this manuscript.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised accordingly.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4. 0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: Https: //creativecommons. org/Licenses/by-nc/4.0/
Corresponding author: Jing Liu, Doctor, Department of Endocrine, Hebei General Hospital, No. 348 Heping West Road, Xinhua District, Shijiazhuang 050000, Hebei Province, China. liujing981531@163.com
Received: February 21, 2024
Revised: May 12, 2024
Accepted: June 7, 2024
Published online: August 6, 2024
Processing time: 132 Days and 0.5 Hours
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.
Core Tip: This case presents an overview of the clinical and mutational patterns observed in a pediatric patient diagnosed with Sotos syndrome and comorbid attention-deficit/hyperactivity disorder. Clinical features included accelerated growth, advanced skeletal maturation, and a normal intelligence quotient. Clinicians must remain aware of the potential for an attention-deficit/hyperactivity disorder diagnosis in Sotos syndrome patients to avoid missed diagnoses and to ensure the prompt provision of appropriate interventions, thereby improving patient quality of life and prognostic outcomes.
