Characteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases.

objectiveSneddon's syndrome is a cerebrocutaneous non-inflammatory progressive distal arteriopathy, characterized by livedo racemosa, stroke, and neuropsychiatric symptoms. Our aim was to highlight the characteristic neuroimaging features of Sneddon's syndrome that might be helpful to clinicians in timely diagnosis of this entity.

methodsTwelve patients (median age 49 years, 11 female) with primary Sneddon's syndrome, diagnosed in last 10 years, were analyzed from the perspective of magnetic resonance imaging (MRI) features. In addition, a novel pseudoangiomatosis score was defined for grading angiographic abnormalities (range: 0 to 6).

resultsMedian interval from the onset of neurological symptoms to diagnosis was 6 years. Presentation was with acute stroke in 5, seizures in 3, dementia/speech problems in 2, seizures plus cognitive dysfunction in 1, and chronic progressive hemiparesis in 1. All patients had a typical lesion pattern on MRI. This included multiple (median 3) cortical-subcortical supratentorial and cerebellar non-territorial infarcts, accompanied by multifocal cerebral atrophy. Of note, large territorial infarcts due to cerebral parent artery occlusion, an embolic pattern with multi-territorial involvement on diffusion-weighted imaging, small vessel disease features like severe white matter involvement or lacunar infarcts, and cerebral hemorrhage in the absence of anticoagulation were not observed. MRI lesion severity was not correlated with angiographic arteriopathy severity, clinical stage, or presentation symptoms.

conclusionSneddon's syndrome is characterized by highly typical clinico-radiological features. Brain MRI has diagnostic value. By knowing the characteristics of the syndrome, misdiagnosis and potentially harmful treatment can be prevented in this entity that might pose a diagnostic challenge.