Abstract
Introduction
Schinzel–Giedion syndrome (SGS) is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. Most individuals affected by SGS die in early childhood mainly because of progressive neurodegeneration and respiratory failure. The causative gene of SGS, SETBP1, was identified, but there are few reports of SGS with molecular confirmation worldwide.
Patient and method
In this study, we present a 10-month-old boy presenting with SGS complicated by epilepsy and profound developmental delay.
Results
Typical facial features, multiple anomalies, and associated neurological findings suggested a clinical diagnosis of SGS. Unusually in our patient, generalized tonic seizure occurred and has been controlled well by combined antiepileptic therapy during 7 months of follow-up. Electroencephalography findings were compatible with partial seizures, and ventriculomegaly, thinning of the corpus callosum, and delayed myelination were identified on brain MR images. SETBP1 mutational analysis revealed the presence of a recurrent mutation, p.Gly870Ser. Thus, the diagnosis of our patient was molecularly confirmed as SGS.
Conclusions
Although this syndrome is extremely rare, it is important to consider SGS in the differential diagnosis of infantile-onset epilepsy with progressive neurodevelopmental retardation, especially in patients with multiple anomalies and facial dysmorphism.
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Acknowledgments
We express our gratitude to the patient and his family for their participation in this study. This study was supported by a grant from the Korean Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (A120099).
Conflict of interest
The authors report no conflicts of interest concerning the materials and methods used in this study or findings specified in this paper.
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Ko, J.M., Lim, B.C., Kim, K.J. et al. Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation. Childs Nerv Syst 29, 525–529 (2013). https://doi.org/10.1007/s00381-013-2047-2
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DOI: https://doi.org/10.1007/s00381-013-2047-2