Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature.

Abstract

BACKGROUND:

Chromosomal Xq28 region duplication encompassing methyl-CpG-binding protein 2 (MECP2) results in an identifiable phenotype and global developmental delay known as MECP2 duplication syndrome (MDS). This syndrome has a wide range of clinical manifestations, including abnormalities in appearance, neurodevelopment, and gastrointestinal motility; recurrent infections; and spasticity. Here, we report a case of confirmed MDS at our institution.

CASE SUMMARY:

A 12-year-old Chinese boy presented with intellectual disability (poor intellectual [reasoning, judgment, abstract thinking, and learning] and adaptive [lack of communication and absent social skills, apraxia, and ataxia] functioning) and dysmorphism. He had no history of recurrent infections, seizures, or bowel dysfunction, which is different from that in reported cases. Microarray comparative genomic hybridization confirmed MECP2 duplication in the patient and his mother who is a carrier. The duplication size was the same in the patient and his mother. No prophylactic antibiotic or anti-seizure therapy was offered to the patient or his mother before or after the consultation.

CONCLUSION:

MDS is rare and has various clinical presentations. Clinical suspicion is critical in patients presenting with developmental delays.

• Authors: Xu-Hang Xing, Russel Takam, Xiu-Ying Bao, Nour Abdallah Ba-Alwi, Hong Ji
• Journal: World journal of clinical cases (World J Clin Cases) Vol. 11 Issue 27 Pg. 6505-6514 (Sep 26 2023) ISSN: 2307-8960 [Print] United States
• PMID: 37900250 (Publication Type: Case Reports)
• Copyright: ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.