Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

被引:8
|
作者
Hong, Jin Ho [1 ]
Lee, Ha Young [1 ]
Lim, Myung Kwan [1 ]
Kim, Mi Young [1 ]
Kang, Young Hye [1 ]
Lee, Kyung Hee [1 ]
Cho, Soon Gu [1 ]
机构
[1] Inha Univ, Inha Univ Hosp, Sch Med, Dept Radiol, Inchon 400711, South Korea
关键词
Cri-du-Chat syndrome; Genetic disorder; Brain stem hypoplasia; Brain MRI; CEREBELLAR; MRI;
D O I
10.3348/kjr.2013.14.6.960
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
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.
引用
收藏
页码:960 / 962
页数:3
相关论文
共 50 条
  • [41] CRI-DU-CHAT SYNDROME - FRENCH - HUGON,G
    MOOR, L
    REVUE DE NEUROPSYCHIATRIE INFANTILE ET D HYGIENE MENTALE DE L ENFANCE, 1968, 16 (03): : 290 - 290
  • [42] Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome
    Rodriguez-Caballero, A.
    Torres-Lagares, D.
    Yanez-Vico, R-M
    Gutierrez-Perez, J-L
    Machuca-Portillo, G.
    ORAL DISEASES, 2012, 18 (02) : 191 - 197
  • [43] Cri-du-chat syndrome associated with arachnoid cyst causing triventricular hydrocephalus
    Balci, S
    Oguz, KK
    CLINICAL DYSMORPHOLOGY, 2001, 10 (04) : 289 - 290
  • [44] CRI-DU-CHAT WITH CHROMOSOMAL MOSAICISM
    ZELLWEGER, H
    LANCET, 1966, 2 (7453): : 57 - +
  • [45] CRI-DU-CHAT WITH CHROMOSOMAL MOSAICISM
    ANTICH, J
    RIBASMUN.M
    PRATS, J
    ROCA, M
    LANCET, 1968, 1 (7541): : 538 - &
  • [46] CRI-DU-CHAT - REPORT OF A CASE
    SPARKS, S
    HUTCHINSON, B
    JOURNAL OF COMMUNICATION DISORDERS, 1980, 13 (01) : 9 - 13
  • [47] 5 CASES OF CRI-DU-CHAT
    MAINARDI, PC
    VIANELLO, MG
    BONIOLI, E
    MINERVA PEDIATRICA, 1976, 28 (38) : 2389 - 2400
  • [48] Adaptive and maladaptive behaviour in children with Cri-du-chat syndrome
    Comish, KM
    Munir, F
    Bramble, D
    JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, 1998, 11 (03) : 239 - 246
  • [49] Mosaic cri-du-chat syndrome in a girl with a mild phenotype
    Moreira L.M.D.A.
    De Carvalho A.F.L.
    Borja A.L.V.D.F.
    Pinto P.S.P.
    Silveira A.
    De Freitas L.M.
    Falcão M.D.L.L.
    Journal of Applied Genetics, 2008, 49 (4) : 415 - 420
  • [50] A new genomic mechanism leading to cri-du-chat syndrome
    South, Sarah T.
    Swensen, Jeffrey J.
    Maxwell, Teresa
    Rope, Alan
    Brothman, Arthur R.
    Chen, Zhong
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) : 2714 - 2720