Divry van Bogaert syndrome

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Divry van Bogaert syndrome is a familial juvenile-onset syndrome characterized by livedo racemosa, juvenile ischemic stroke, juvenile cerebral white matter disease leading to premature dementia, and epilepsy.

Clinical presentation

  • juvenile ischemic stroke
  • epilepsy
  • early-onset cognitive impairment
  • livedo racemosa: a net-like violaceous discoloration of the skin, persistent even after warming of the limbs
Diagnostic criteria
  • hereditary
  • juvenile dementia or juvenile-onset of progressive cognitive impairment 
  • juvenile ischemic stroke (defined as a stroke <45 years)
  • juvenile onset of leukoaraiosis 
  • livedo racemosa 
  • cerebral angiogram showing peripheral arterial occlusions and peripheral angiomatosis 
  • exclusion of other reasons for stroke in young adults (e.g. CNS vasculitis, repeated thromboembolism, thrombophilia, CADASIL, etc.)

Radiographic features

Angiography (DSA)

Typical features include:

  • extensive, multifocal occlusions of the peripheral, small- and medium-sized cerebral arteries
  • extensive neovascularization, with a network of thin and irregular collateral vessels giving an 'angiomatous appearance' of the peripheral circulation
    • leptomeningeal anastomoses are present: small arterial connections connecting the terminal cortical branches of the major arteries MCA, ACA and PCA
    • transdural anastomoses are present: connecting the ECA and ICA territory
MRI

MRI brain reveals diffuse leukoaraiosis and/or acute ischemic strokes.

Treatment and prognosis

There is no effective treatment (as of September 2019), but antiplatelet therapy is usually advised, similar to management in many other cerebral arteriopathies.

Differential diagnosis

  • Sneddon syndrome:
    • less severe cerebrovascular involvement
    • cerebral angiomatosis, juvenile cognitive impairment, and epilepsy are rare
    • there usually is no positive familiar history for the disease
    • approximately half of Sneddon syndrome patients also have antiphospholipid syndrome
    • skin biopsy can be diagnostic
  • moyamoya disease
    • DSA typically shows occlusion of proximal, large-sized cerebral arteries
    • there are multiple very small perforator collaterals proximally around the occlusions at the circle of Willis giving a 'cloudy', 'puff of smoke' appearance, unlike Dirvy van Bogeart syndrome which has distal/peripheral angiomatous processes