Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

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...

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Detalles Bibliográficos
Autores principales: Hong, Jin Ho, Lee, Ha Young, Lim, Myung Kwan, Kim, Mi Young, Kang, Young Hye, Lee, Kyung Hee, Cho, Soon Gu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Radiology 2013
Materias:
Pediatric Imaging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835645/
https://www.ncbi.nlm.nih.gov/pubmed/24265573
http://dx.doi.org/10.3348/kjr.2013.14.6.960
Descripción
Sumario: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.

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