One case of 18q-deletion syndrome with intellectual disability, epileptic seizures and white matter lesions and literature review
10.3760/cma.j.cn113694-20250121-00044
- VernacularTitle:以智力障碍、癫痫发作、脑白质病变为主要表现的18q缺失综合征1例并文献复习
- Author:
Yuhang DONG
1
;
Yingjie DAI
1
;
Huisheng CHEN
1
Author Information
1. 北部战区总医院神经内科，沈阳 110016
- Publication Type:Journal Article
- Keywords:
Epilepsy;
Intellectual disability;
White matter lesions;
18q
- From:
Chinese Journal of Neurology
2025;58(10):1064-1072
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the clinical data of a patient with 18q-deletion syndrome primarily presenting with intellectual disability, seizures, and white matter lesions, and to summarize the phenotypic and genetic characteristics of this syndrome.Methods:The clinical data, auxiliary examinations, and genetic test results of a patient diagnosed with 18q-deletion syndrome in the Department of Neurology, General Hospital of Northern Theater Command in October 2023 were retrospectively collected. Additionally, literatures related to "18q-syndrome" "18q-deletion syndrome" were searched in the CNKI, Wanfang Database, and PubMed databases. Combining a review of relevant literature, the clinical phenotypes and genetic features of 18q-deletion syndrome were summarized.Results:The patient was a 17-year-old male presenting with seizures, severe intellectual disability (Mini-Mental State Examination score of 11), and white matter lesions on brain magnetic resonance imaging. Whole-exome sequencing and chromosomal microarray analysis confirmed an approximately 11.3 Mb copy number deletion in the 18q22.1-q23 region, involving dosage-sensitive genes such as TSHZ1, MBP, NETO1, and ZNF407, leading to a diagnosis of 18q- deletion syndrome. A literature review identified 18 previously reported cases of 18q-deletion syndrome, totaling 19 cases including this patient. The main clinical manifestations included facial dysmorphism (10/19), intellectual disability (9/19), mental and/or motor developmental delay (9/19), congenital heart disease (8/19), seizures (6/19) and white matter lesions (5/19). Pathogenic genes involved included TCF4, SMAD4, TSHZ1, ZNF407, ZNF516, and MBP. Conclusions:18q-deletion syndrome is caused by partial deletion of the long arm of chromosome 18, with neurological manifestations such as seizures, intellectual disability, and white matter lesions, exhibiting high phenotypic variability. Genetic testing aids in definitive diagnosis.
