Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome.
10.3348/kjr.2013.14.6.960
- Author:
Jin Ho HONG
1
;
Ha Young LEE
;
Myung Kwan LIM
;
Mi Young KIM
;
Young Hye KANG
;
Kyung Hee LEE
;
Soon Gu CHO
Author Information
1. Department of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon 400-711, Korea. pengoon@gmail.com
- Publication Type:Case Reports
- Keywords:
Cri-du-Chat syndrome;
Genetic disorder;
Brain stem hypoplasia;
Brain MRI
- MeSH:
Brain Stem/*pathology;
Cri-du-Chat Syndrome/*complications/diagnosis;
Diagnosis, Differential;
Female;
Humans;
Infant;
Magnetic Resonance Imaging/*methods;
Pons/pathology
- From:Korean Journal of Radiology
2013;14(6):960-962
- CountryRepublic of Korea
- Language:English
-
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.
