Sneddon síndrome. A case presentation and review of key points
DOI:
https://doi.org/10.53903/01212095.315Keywords:
Livedo reticularis, Trastornos cerebrovasculares, Imagen por resonancia magnética, Síndrome de Sneddon, Vasculopatía, TrombosisAbstract
SNEDDON syndrome (SS) is a rare, non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease and livedo reticularis (LR). The estimated incidence of SS is 4/1,000,000 per year in the general population and usually occurs in women between the ages of 20 and 42 years. For the diagnosis of SS, skin biopsy and abnormal findings on neurological examination and/or magnetic resonance imaging (MRI) are mainly taken into account. Among these latter findings, it is important to highlight the presence of nonspecific multiterritorial infarcts
and cortical atrophy and, less frequently, hemorrhagic changes such as cerebral microbleeds. Angiography may reveal stenosis or occlusion of medium and large arteries and extensive networks of small collateral vessels. Previous retrospective studies on the course of the disease have revealed a wide range of neurological symptoms. We present the case of a 48-year-old woman with SNEDDON syndrome, characterized by multiple recurrent ischemic events, livedo reticularis, history of two spontaneous abortions, hypertension, progressive neurological deterioration, and a confirmed mutation of the CECR1 gene (22q11.2), who underwent a brain MRI that showed old infarcts in the bilateral centrum semiovale and basal ganglia, as well as microbleeds in the brainstem, among others. This case highlights the importance of considering SS in young patients with a history of recurrent cerebral ischemia and livedo reticularis.
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