title: Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors: Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
authors: Jung Min
authors: JM
authors: Ko
authors: Byung Chan
authors: BC
authors: Lim
authors: Ki Joong
authors: KJ
authors: Kim
authors: Yong Seung
authors: YS
authors: Hwang
authors: Hye Won
authors: HW
authors: Ryu
authors: Jung Ho
authors: JH
authors: Lee
authors: Jon Su
authors: JS
authors: Kim
authors: Jong-Hee
authors: JH
authors: Chae
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis* / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human
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