Divry van Bogaert Syndrome
The Divry van Bogaert Syndrome is a familial juvenile-onset syndrome characterized by livedo racemosa and cerebral white matter disease leading to dementia and epilepsy.
Key diagnostic features:
- juvenile onset of progressive cognitive impairment / juvenile dementia
- juvenile onset of leukoaraiosis / juvenile stroke <45 years
- livedo racemosa (persistent net-like violaceous discoloration of the skin, persistent even after warming of the limbs)
- typical cerebral angiogram (peripheral arterial occlusions and angiomatosis described below)
- exclusion of Vasculitis, Thrombophilia, CADASIL etc.
The cerebral angiogram in Divry van Bogaert Syndrome shows extensive, multifocal occlusions of the peripheral, small and medium sized cerebral arteries. There is extensive neovascularization seen as a network of thin and irregular, corkscrew-like collateral vessels described in the literature as 'angiomatous appearance'. There are leptomeningeal and transdural anastomoses. Unlike in Moyamoya-like angiopathies or acquired stenoocclusive disease, there typically is no occlusion of the proximal arteries like the terminal ICA or MCA.
The cerebral MRI shows leukoaraiosis or ischemic lesions.
- Sneddon Syndrome: Less severe cerebrovascular involvement. Cerebral angiomatosis is rarely seen. Juvenile cognitive impairment is rare, epilepsy is rare. There usually is no positive familiar history for the disease (i.e. for juvenile stroke or juvenile dementia, livedo racemosa). Half of the Sneddon-Syndrome patients also have antiphospholipid syndrome. Skin biopsy can be diagnostic.
- Moyamoya-Angiopathy: Cerebral angiogram typically shows occlusion of proximal, large-sized arteries like distal ICA or MCA / ACA occlusions, often bilaterally. There are multiple very small perforator colaterals proximally (around the occlusions at the circle of willis level) giving a 'cloudy', 'puff of smoke' appearance.
There is no effective treatment yet, but antiplatelet therapy is usually advised like in many other cerebral arteriopathies.
- Bersano A, Morbin M, Ciceri E, Bedini G, Berlit P, Herold M, Saccucci S, Fugnanesi V, Nordmeyer H, Faragò G, Savoiardo M, Taroni F, Carriero M, Boncoraglio Giorgio B, Perucca L, Caputi L, Parati Eugenio A, Kraemer M. The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. (2016) Journal of the neurological sciences. 364: 77-83. doi:10.1016/j.jns.2016.03.011 - Pubmed