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Silver-Russell Syndrome and Middle Cerebral Artery Infarct: A Case Report

Silver-Russell syndrome (SRS) is a disorder characterized by severe intrauterine and postnatal growth retardation, a typical triangular face, asymmetry, clinodactyly, and feeding difficulties. Hypomethylation in the imprinting control region 1 gene at 11p15 is the major epigenetic disturbance in SRS, and approximately one tenth of patients also carry a maternal uniparental disomy of chromosome 7. We report the first case of a 5-year-old girl with SRS presenting with epileptic seizures following a left-sided middle cerebral artery occlusion. Early diagnosis and effective therapy of thromboembolic events in SRS can prevent complications and sequelae.