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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / drug therapy
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology
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Adrenocorticotropic Hormone / therapeutic use
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Brain / pathology
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Brain / physiopathology
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Carrier Proteins / genetics
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Craniofacial Abnormalities / complications*
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Craniofacial Abnormalities / drug therapy
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Craniofacial Abnormalities / genetics
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Craniofacial Abnormalities / pathology
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DNA Mutational Analysis
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Diagnosis, Differential
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Electroencephalography
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Female
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Hand Deformities, Congenital / complications*
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Hand Deformities, Congenital / drug therapy
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Hand Deformities, Congenital / genetics
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Hand Deformities, Congenital / pathology
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Hormones / therapeutic use
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Humans
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Infant
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Intellectual Disability / complications*
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Intellectual Disability / drug therapy
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Mutation
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Nails, Malformed / complications*
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Nails, Malformed / drug therapy
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Nails, Malformed / genetics
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Nails, Malformed / pathology
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Nuclear Proteins / genetics
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Spasms, Infantile / complications*
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Spasms, Infantile / drug therapy
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Spasms, Infantile / genetics
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Spasms, Infantile / pathology
Substances
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Carrier Proteins
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Hormones
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Nuclear Proteins
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SETBP1 protein, human
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Adrenocorticotropic Hormone
Supplementary concepts
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Schinzel-Giedion syndrome