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Case Reports
. 2024 Aug 6;12(22):5131-5139.
doi: 10.12998/wjcc.v12.i22.5131.

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

Ya-Jing Yang  1 , Bei-Yi Li  2 , Ke-Xin Gan  3 , Jing Liu  4 , Xiu-Qin Lv  3 , Dong-Mei Zhang  3 , Hui-Juan Ma  5
Affiliations
Case Reports

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

Ya-Jing Yang et al. World J Clin Cases. .

Abstract

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.

Keywords: Attention-deficit/hyperactivity disorder; Case report; Comorbidity; Developmental disabilities; Diagnosis; Management; Nuclear receptor binding SET domain protein 1; Sotos syndrome.

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Conflict of interest statement

Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.

Figures

Figure 1
Figure 1
X-ray image of the patient’s left hand and magnetic resonance image of the pituitary gland. A: X-ray image of the patient’s left hand; B: Magnetic resonance image scans of the patient’s pituitary gland.
Figure 2
Figure 2
Genetic sequencing results for the proband.
Figure 3
Figure 3
Genetic sequencing results for the proband’s parents. A: NSD1 c.4605C>T mutation not present in the proband’s mother; B: NSD1 c.4605C>T mutation present in the proband’s father.
Figure 4
Figure 4
Trends in height and weight changes.
See this image and copyright information in PMC

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