Intracerebral haemorrhage associated with collagen type IV alpha 2 gene mutation and familial small vessel disease
Abstract
A woman in her late 50s presented with a 2-day history of left-sided headache, confusion and speech disturbance. Neuroimaging revealed a large left parietal-temporal haematoma with surrounding oedema and multiple microhaemorrhages in contralateral brain regions. There was a significant family history of young-onset stroke. Subsequent genetic testing confirmed a pathogenic COL4A2 mutation, consistent with hereditary cerebral small vessel disease. Management included blood pressure optimisation, migraine prophylaxis and cognitive support. This case highlights the importance of considering monogenic causes of intracerebral haemorrhage in patients with atypical imaging and positive family history, enabling early intervention and family screening.
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