Congenital brain malformations associated with COL4A1 gene mutations: A case series.

Source: PubMed, NCBI / U.S. National Library of Medicine

Mutations in the COL4A1 gene, which encodes one of the chains of type IV collagen, affect the basement membrane of various organs, including the brain, eyes, kidneys, and skeletal muscle. These abnormalities can manifest as early as fetal life with a highly variable clinical spectrum, particularly in the central nervous system, where conditions such as intracerebral hemorrhages, porencephaly, hydranencephaly, schizencephaly, hydrocephalus, and periventricular leukomalacia are observed. Extracerebral manifestations include congenital cataracts, intraocular hypertension, hematuria, and arrhythmias. The disease is inherited in an autosomal dominant manner, with complete penetrance. This article describes three clinical cases with prenatal presentation and pathogenic mutations in COL4A1, highlighting their clinical and imaging features, to contribute to timely diagnosis in patients with central nervous system malformations and improve clinical suspicion within the medical field.