Korean Journal of Radiology

The Korean Society of Radiology (대한영상의학회)
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Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

  • Hong, Jin Ho (Department of Radiology, Inha University Hospital, Inha University School of Medicine) ;
  • Lee, Ha Young (Department of Radiology, Inha University Hospital, Inha University School of Medicine) ;
  • Lim, Myung Kwan (Department of Radiology, Inha University Hospital, Inha University School of Medicine) ;
  • Kim, Mi Young (Department of Radiology, Inha University Hospital, Inha University School of Medicine) ;
  • Kang, Young Hye (Department of Radiology, Inha University Hospital, Inha University School of Medicine) ;
  • Lee, Kyung Hee (Department of Radiology, Inha University Hospital, Inha University School of Medicine) ;
  • Cho, Soon Gu (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
  • Received : 2013.04.30
  • Accepted : 2013.07.19
  • Published : 2013.11.01
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Abstract

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

Keywords

References

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