Makindo Medical Notes

Related Subjects: |Neurological History taking |Causes of Stroke

Sneddon syndrome is characterized by livedo reticularis associated with cerebrovascular disease.

About

• A somewhat rare and progressive syndrome
• 4 per million, affects young women 20-40 predominantly
• Described by Sneddon in 1966 - Cerebrovascular lesions and livedo reticularis

Aetiology

• Non-inflammatory thrombotic vasculopathy
• Eventually leads to dementia for half
• Thrombotic occlusions, arteriovenous malformation, and moyamoya type anastomoses
• Heterozygous missense mutations in the CECR1 gene

Associations

• Systemic lupus erythematosus
• Antiphospholipid syndrome
• Behcet disease
• Mixed connective tissue disease

Clinical

• Patients may have transient "episodes" or "spells", chronic headaches
• Stroke/TIA events: hemiplegia, aphasia, hemianopia and hemianesthesia
• Subarachnoid haemorrhage, spinal stroke
• Livedo racemosa : violaceous-cyanotic, mottled discolouration of the skin affecting primarily the legs and arms, but also involving the buttocks and the trunk, and that is exacerbated by cold or pregnancy.
• Livedo reticularis: affects extremities and seen mainly when cold
• Headache, dizziness, high BP, cognitive issues, seizures, chorea
• Other organs: kidneys, heart, eyes and peripheral nerves

Differentials

• Reversible cerebral vasoconstriction syndrome
• MELAS syndrome
• Vascular dementia
• Migraine
• Cerebral angiitis.

Investigations

• Immunological studies are generally negative.
• Anti-DNA, anti-SSA, anti-SSB, anti-Sm and anti-RNP and anti RF are all negative.
• Occasionally ANA, cryoglobulins, APL antibodies, anticardiolipin, lupus anticoagulant or anti-beta2GPI antibodies can be detected
• MRI: white matter disease, infarcts, microbleeds or atrophy.
• Antiphospholipid antibodies may be positive in about 60% of cases.
• Cerebral angiography can be normal
• Skin biopsy: inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis.

Management

• Anticoagulation may be considered.
• Antiplatelets for lower risk e.g. APL negative
• ACEI may reduce endothelial proliferation
• Immunosuppression e.g. rituximab may be effective in aPL-positive patients.

References