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.

• Authors: Fuyu Miyake, Yukiko Kuroda, Takuya Naruto, Ikuko Ohashi, Kyoko Takano, Kenji Kurosawa
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 7 Pg. 932-6 (Jun 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25028416 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s) 2014.

Chemical References

• Carrier Proteins
• Hormones
• Nuclear Proteins
• SETBP1 protein, human
• Adrenocorticotropic Hormone

Topics

• Abnormalities, Multiple (drug therapy, genetics, pathology)
• Adrenocorticotropic Hormone (therapeutic use)
• Brain (pathology, physiopathology)
• Carrier Proteins (genetics)
• Craniofacial Abnormalities (complications, drug therapy, genetics, pathology)
• DNA Mutational Analysis
• Diagnosis, Differential
• Electroencephalography
• Female
• Hand Deformities, Congenital (complications, drug therapy, genetics, pathology)
• Hormones (therapeutic use)
• Humans
• Infant
• Intellectual Disability (complications, drug therapy, genetics, pathology)
• Mutation
• Nails, Malformed (complications, drug therapy, genetics, pathology)
• Nuclear Proteins (genetics)
• Spasms, Infantile (complications, drug therapy, genetics, pathology)