期刊
JOURNAL OF CHILD NEUROLOGY
卷 30, 期 7, 页码 932-936出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073814541468
关键词
epilepsy; SET binding protein 1 (SETBP1); adrenocorticotropic hormone (ACTH)
资金
- Ministry of Health, Labour and Welfare, Japan
- Grants-in-Aid for Scientific Research [26461538] Funding Source: KAKEN
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.
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