Congenital brain malformations associated with COL4A1 gene mutations: A case series.
Magdalena Grassi, Carolina Williams, Sofía Juárez Peñalva et al.
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Case in brief
This case series describes three patients with prenatal presentation and pathogenic COL4A1 mutations. COL4A1 encodes a type IV collagen chain, and mutations can affect basement membranes in several organs. The reported clinical and imaging features involved congenital central nervous system malformations; the abstract lists a broad spectrum associated with COL4A1, including intracerebral hemorrhage, porencephaly, hydranencephaly, schizencephaly, hydrocephalus, and periventricular leukomalacia. It does not specify the individual findings or clinical outcomes in these three patients.
What made this case unusual
The report focuses on prenatal presentation of pathogenic COL4A1 mutations in association with congenital brain malformations, emphasizing the value of considering a multisystem basement-membrane disorder in this setting.
Diagnostic / clinical pearl
In a fetus with a central nervous system malformation, COL4A1-related disease is a diagnostic consideration; associated manifestations may also involve the eyes, kidneys, or skeletal muscle.
Why it matters
Recognizing the broad clinical spectrum may support timely diagnosis and improve clinical suspicion, as the authors conclude.