Polymicrogyria with vascular Ehlers-Danlos syndrome caused by a biallelic COL3A1 mutation: a case report and literature review
10.3760/cma.j.cn101070-20240922-00610
- VernacularTitle:COL3A1双等位基因突变致多小脑回伴血管型Ehlers-Danlos综合征1例并文献复习
- Author:
Song SU
1
;
Rujin TIAN
;
Qi ZHANG
;
Hongwei ZHANG
Author Information
1. 山东大学附属儿童医院(济南市儿童医院)神经内科，济南 250022
- Publication Type:Journal Article
- Keywords:
COL3A1 gene;
Biallelic gene;
Compound heterozygous mutation;
Polymicrogyria with or without vascular Ehlers-Danlos syndrome;
Whole-exome sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(9):694-698
- CountryChina
- Language:Chinese
-
Abstract:
The clinical features and COL3A1 gene mutation characteristics of a child with polymicrogyria accompanied by vascular Ehlers-Danlos syndrome (vEDS) admitted to the Department of Neurology, Children′s Hospital Affiliated to Shandong University in November 2023 were reported and related literature was reviewed.The patient was an 10-year-old female who presented with clinical manifestations such as epileptic seizures, abnormal eye movements, hyperopia and nystagmus, bruise susceptibility, delayed motor and language development, and impaired intellectual development.Imaging examinations revealed polymicrogyria and cerebellar hypoplasia.The patient had splenic rupture and gastric bleeding in the past.The patient′s elder sister displayed distinct facial features, nystagmus, strabismus, amblyopia and astigmatism, bruise susceptibility, delayed motor and language development, and impaired intellectual development.Her imaging examinations revealed pachygyria and polymicrogyria malformations, and she had a history of multiple episodes of pulmonary hemorrhage.Whole-exome sequencing of the family identified compound heterozygous mutations in the COL3A1 gene, specifically c. 3409G>A and c. 811C>T, in both the patient and her elder sister.To date, 2 homozygous mutation sites and 2 compound heterozygous variant sites associated with polymicrogyria with or without vEDS have been reported internationally, but no such cases have been documented in China.This case represents a compound heterozygous mutation in the COL3A1 gene, with neither of the 2 variant types and sites previously reported in the literature.Thus, this case expands the phenotypic and mutational spectrum of this disease.
