Background Mutation in the collagen gene COL4A1 is a newly recognised cause of cerebral small vessel disease leading to porencephaly and/or stroke. It is inherited as an autosomal dominant trait and has a wide inter and intrafamilial variation in presentation. We present the details of 5 UK families with a COL4A1 mutation.
Results Presentation of index case was recurrent stroke in 2/5 at age 14 years and 4 years, infantile hemiplegia in 2/5 and infantile spasms in 1/5. Stroke occurred following a surgical procedure under general anaesthesia in 2 families. A history of migraine was present in family members in 3/5 families. Congenital cataracts with/without anterior segment dysgenesis was present in 4/5 cases and nystagmus was present in the 1 case without cataracts. MRI showed leukoencephalopathy involving deep white matter in 5/5 cases and porencephaly in cases with infantile hemiplegia. Gradient echo detected microhaemorrhages. A COL4A1 mutation was confirmed in all index cases. The same mutation in exon 30 leading to the same phenotype was found in 2 cases.
Conclusion We suggest that COL4A1 mutation should be considered in individuals with 2 or more features of leukoencephalopathy, porencephaly, micro or macrohaemorrhages or cataracts/anterior segment dysgenesis especially if a family history is present. We propose an investigation protocol to look for the various features of the disease. General anaesthesia might be a risk factor for strokes.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.