Ayçiçek Ceçen, Erhan Çelikoğlu, M. İş, A. Ramazanoğlu
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引用次数: 0
Abstract
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.
期刊介绍：
Neurosurgery Quarterly synthesizes the broad wealth of material on international developments in the diagnosis, management, and surgical treatment of neurological disorders. By encompassing viewpoints from worldwide sources, the journal provides information in greater depth than is usually found in the medical literature.
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