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.

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.