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.

Differentials

Several mutations of the same gene cause a more severe manifestation called Porencephaly.

Management

In the management of the disorder anticoagulants are better avoided because of the risk to cause severe cerebral bleeding.

Systematic

Hereditary neurological disorders
	Alzheimer disease
	Arts syndrome
	Ataxia-pancytopenia syndrome
	Autism
	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
	Autosomal recessive spastic paraplegia type 44
	Brain malformations with urinary tract defects
	Brain small vessel disease with hemorrhage
		COL4A1
		COL4A2
	Brunner syndrome
	Charcot-Marie-Tooth disease
	Congenital insensitivity to pain with anhidrosis
	Epilepsy syndrome
	Hereditary benign chorea
	Hereditary brain tumors
	Hereditary distal motor neuron neuropathy type 5A
	Hereditary muscle diseases
	Hereditary sensory and autonomic neuropathy type 2A
	Hereditary sensory neuropathy type 1E
	Hypokalemic periodic paralysis 1
	Hypomyelinating Leukodystrophy 2
	Idiopathic basal ganglia calcification 1
	Intellectual disability-severe speech delay-mild dysmorphism syndrome
	Migraine
	Nemaline myopathy 5
	Porencephaly
	Rett syndrome
	Severe neonatal-onset encephalopathy with microcephaly
	Spastic paraplegia 17 with amyotrophy of hands and feet
	Susceptibility to glioma
	Tuberous sclerosis complex
	Vascular dementia
	X-linked syndromic mental retardation 13

References:

1.	Vahedi K et al. (2003) Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

2.	Van Agtmael T et al. (2005) Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

3.	Gould DB et al. (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

4.	Sibon I et al. (2007) COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

5.	Vahedi K et al. (2007) Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

6.	Orphanet article Orphanet ID 36383

7.	OMIM.ORG article Omim 607595

8.	Wikipedia article Wikipedia EN (Axenfeld_syndrome)