Sneddon Syndrome
Related Subjects:
|Neurological History taking
|Causes of Stroke
Sneddon Syndrome ๐๐ง is a rare progressive disorder defined by the combination of
livedo reticularis/livedo racemosa (skin changes) and cerebrovascular disease (stroke/TIA).
It often affects young women, is linked with autoimmune disease, and carries a high risk of cognitive decline and dementia.
๐ About
- Rare: ~4 per million, mostly women aged 20โ40.
- First described by Sneddon in 1966 as a syndrome of stroke + livedo reticularis.
- Progressive course โ ~50% develop dementia over time.
โ๏ธ Aetiology & Pathophysiology
- Non-inflammatory thrombotic vasculopathy: small- and medium-vessel occlusion.
- Arterial lesions may mimic arteriovenous malformations or moyamoya-like changes.
- Genetic: CECR1 (ADA2 deficiency) mutations reported in some cases.
- Leads to chronic ischaemia โ infarcts, microbleeds, and atrophy.
๐ค Associations
- Systemic lupus erythematosus (SLE) ๐ฆ
- Antiphospholipid syndrome (aPL) ๐งช
- Behรงet disease
- Mixed connective tissue disease
๐ฉบ Clinical Features
- ๐ Recurrent neurological events: TIAs/strokes โ hemiplegia, aphasia, hemianopia, sensory loss.
- ๐ฅ Can present with subarachnoid haemorrhage or spinal strokes.
- ๐ Skin:
- Livedo racemosa: fixed, violaceous, net-like mottling on legs, arms, buttocks, trunk; worsens with cold or pregnancy.
- Livedo reticularis: transient mottling of extremities, cold-induced.
- ๐ง Other neuro: chronic headaches, dizziness, seizures, chorea, cognitive decline.
- โก Hypertension often present.
- ๐ Other organ involvement: kidney, heart, eyes, peripheral nerves.
๐ Differentials
- Reversible cerebral vasoconstriction syndrome (RCVS)
- MELAS (mitochondrial encephalopathy)
- Vascular dementia
- Migraine with aura
- Cerebral angiitis (vasculitis)
๐งช Investigations
- Bloods: Immunology usually negative (ANA, ENA, RF). But aPL antibodies (anticardiolipin, lupus anticoagulant, anti-ฮฒ2GPI) are + in ~60%.
- MRI brain: white matter hyperintensities, lacunar infarcts, microbleeds, atrophy.
- Cerebral angiography: may be normal or show small-vessel irregularities.
- Skin biopsy: non-inflammatory arteriopathy โ subendothelial proliferation, fibrosis, luminal narrowing.
๐ Management
- ๐ฉธ Anticoagulation: often used in high-risk/aPL-positive patients.
- ๐ Antiplatelets: reasonable in lower risk or aPL-negative cases.
- ๐ ACE inhibitors: may reduce endothelial proliferation.
- ๐งฌ Immunosuppression: e.g., rituximab may help in aPL-positive cases with inflammatory features.
- ๐ฏ Risk factor control: strict BP management, lifestyle modification.
๐ Exam & OSCE Pearls
- Young woman + strokes + livedo racemosa = think Sneddon syndrome.
- Differentiate livedo racemosa (persistent, widespread, systemic) from livedo reticularis (cold-induced, peripheral).
- Always check for antiphospholipid antibodies and autoimmune disease.
- Long-term outlook: high risk of progressive vascular dementia despite therapy.
๐ References
- Kalashnikova LA, et al. Sneddonโs syndrome: clinical and neuroimaging study. Cerebrovasc Dis. 2003.
- Nicolas G, et al. Sneddon syndrome revisited: genetic insights and update. Stroke. 2014.
- Behjati R, et al. Sneddonโs syndrome: a review. Orphanet J Rare Dis. 2013.
