Col4a1 related brain small vessel disease
- 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.