Brain small vessel disease with hemorrhage
Brain small vessel disease with Axenfeld-Rieger anomaly is an autosomal recessive disorder characterized by cerebrl bleedings. Other clinical features include retinal arteriolar tortuosity, hypopigmentation of the fundus, and diffuse leukoencephalopathy. The disease can manifest in infantile hemiparesis. It is caused by mutations of the COL4A1 gene. Because of similar structure and function mutations of the COL4A2 genes may case the same clinical picture.
Several mutations of the same gene cause a more severe manifestation called Porencephaly.
In the management of the disorder anticoagulants are better avoided because of the risk to cause severe cerebral bleeding.
Vahedi K et al. (2003) Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.[^]
Van Agtmael T et al. (2005) Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.[^]
Gould DB et al. (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke.[^]
Sibon I et al. (2007) COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.[^]
Vahedi K et al. (2007) Clinical and brain MRI follow-up study of a family with COL4A1 mutation.[^]
Orphanet articleOrphanet ID 36383 [^]
OMIM.ORG articleOmim 607595 [^]
Wikipedia articleWikipedia EN (Axenfeld_syndrome) [^]