Col4a1 related brain small vessel disease

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  • 20-year-old patient presented with transient sensory disturbance affecting the right arm.
  • MRI showed small vessel territory ischaemic damage within the deep grey nuclei and cerebral white matter.
  • Cerebral white matter bulk was reduced.
  • Abnormal gyration in the perirolandic region suggestive an intrauterine vascular event.
  • Genetic testing revealed a COL4A1 mutation.

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  • A 40-year-old patient presented following a left frontoparietal lobar haematoma.
  • A follow-up MRI showed a severe burden of small vessel disease, the chronic sequlae of the haematoma and many microhaemorrhages.
  • As can be associated with COL4A1, both globes were flattened.