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Case Reports
. 2013 Apr;29(4):525-9.
doi: 10.1007/s00381-013-2047-2. Epub 2013 Feb 12.

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation

Jung Min Ko  1 , Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang, Hye Won Ryu, Jung Ho Lee, Jon Su Kim, Jong-Hee Chae
Affiliations
Case Reports

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation

Jung Min Ko et al. Childs Nerv Syst. 2013 Apr.

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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