Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.

Abstract excerpt

Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified patients based on a review of the literature. In this case, we describe a male infant that presents with hemiparesis, developmental delay and gait abnormalities at...

Topics

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• Basement Membrane
• Collagen Type IV
• Family
• Infant
• Mutation
• Phenotype