West syndrome in a patient with Schinzel-Giedion syndrome
- PMID: 25028416
- DOI: 10.1177/0883073814541468
West syndrome in a patient with Schinzel-Giedion syndrome
Abstract
Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed.
Keywords: SET binding protein 1 (SETBP1); adrenocorticotropic hormone (ACTH); epilepsy.
© The Author(s) 2014.
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