Brain Small Vessel Disease with Hemorrhage

What is Brain Small Vessel Disease with Hemorrhage?

Brain Small Vessel Disease with Hemorrhage is a rare disease. It is also known as Brain Small Vessel Disease With Axenfeld-rieger Anomaly Brain Small Vessel Disease With Hemorrhage HANAC syndrome Infantile Hemiparesis Leukoencephalopathy With Axenfeld-rieger Anomaly Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant.

This refers to a family reported by Vahedi et al., (2003). Three generations were affected (females and males equally) but without male to male transmission. Six of the 8 members were symptomatic and 2 had had an infantile hemiparesis. At least 5 had retinal arteriolar tortuosity with diffuse hypopigmentation of the fundus or hypopigmentation of the inferior part of the fundus. Three had migraine with aura and one had seizures. Hematuria occurred in one. Brain tumours (invasive glioma and an acoustic schwannoma) occurred in 2 and one had a germinal seminomatous tumour of the mediastinum. An MRI revealed that more than half had old infarctsor microbleeds and there were hypointense signals in the basal ganglia and white matter consistent with dilated perivascular spaces. See under CADASIL and arterial disorders of brain and retina for something similar. Note that this family did not seem to map to 3p1.
Other families have been reported by Plasier et al., (2005), Plasier et al., (2007). The condition maps to 13q34 and mutations have been found in COL4A1 (Plasier et al., 2007). Note the family reported by Ophoff et al., (2001) of hereditary endotheliopathy with retinopathy, nephropathy and stroke that mapped to 3p21.
Note the case reported by Takenouchi et al., (2015) of a fetus with porencephaly and an episode of microangiopathic hemolysis in infancy, whose father had HANAC. Both had COL4A1 mutations.
Durrani-Kolarik et al. (2017) described a girl diagnosed prenatally with IUGR and brain anomalies. Fetal MRI showed an extensive stroke in parietal, frontal and temporal lobes involving both cortex and white matter. At birth, eye abnormalities including eyelid edema, proptosis, cloudy cornea, absent red reflexes, and bilateral size and shape abnormalities of the pupil and iris were found. On ophthalmologic examination anterior segment dysgenesis (complete malformation of the cornea, anterior chamber, and trabecular meshwork and iris) was confirmed, as well as megalocornea, bilateral absence of lens, and increased intraocular pressures. Molecular testing revealed a de novo point mutation in COL4A1.
Abe et al. (2016) reported a boy with heterozygous mutation in the COL4A1 gene presenting with soft cleft palate, multiple cerebral hemorrhages and schizencephaly; he later developed West syndrome, developmental delay, and laryngomalacia. At the age of three years renovascular hypertension was diagnosed and led to retinal arteriosclerosis. Repeated massive hemorrhage from the tracheostomy site and a diffuse pulmonary hemorrhage were reported.



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* This information is courtesy of the L M D.

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What gene changes cause Brain Small Vessel Disease with Hemorrhage?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 607595 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
COL4A1 - 13q34

What are the main symptoms of Brain Small Vessel Disease with Hemorrhage?

The typical symptoms of the syndrome are:
Microcornea, Ectopia pupillae, Retinal detachment, Developmental cataract, Myopia, Migraine with aura, Microphthalmia, Intellectual disability, mild, Strabismus, Corneal neovascularization, Polycoria, Glaucoma, Hypermetropia, Hypoplasia of the iris, Hypopigmentation of the fundus, Hemiparesis, Opacification of the corneal stroma, Autosomal dominant inheritance, Porencephalic cyst, Posterior leukoencephalopathy, Seizure, Scotoma, Retinal arteriolar tortuosity, Blurred vision, Astigmatism, Amblyopia

How does someone get tested for Brain Small Vessel Disease with Hemorrhage?

The initial testing for Brain Small Vessel Disease with Hemorrhage can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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