Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis

被引：11
作者：
Ninchoji, Takeshi [1 ]
Takanashi, Jun-ichi [1 ]
机构：
[1] Kameda Med Ctr, Dept Pediat, Kamogawa, Chiba 2968602, Japan
来源：
BRAIN & DEVELOPMENT | 2010年 / 32卷 / 07期
关键词：
5p-syndrome; MRI; Pons; Hypoplasia; BRAIN-STEM; MALFORMATION;
D O I：
10.1016/j.braindev.2009.07.003
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypoplasia should be asked about a history of a high-pitched cry in infancy so as not to miss this syndrome. (C) 2009 Elsevier B.V. All rights reserved.
引用
收藏
页码：571 / 573
页数：3
相关论文
共 8 条
  • [1] CEREBELLAR AND BRAIN-STEM HYPOPLASIA IN A CHILD WITH A PARTIAL MONOSOMY FOR THE SHORT ARM OF CHROMOSOME-5 AND PARTIAL TRISOMY FOR THE SHORT ARM OF CHROMOSOME-10
    ARTS, WFM
    HOFSTEE, Y
    DREJER, GF
    BEVERSTOCK, GC
    OOSTERWIJK, JC
    [J]. NEUROPEDIATRICS, 1995, 26 (01) : 41 - 44
  • [2] A developmental classification of malformations of the brainstem
    Barkovich, A. James
    Millen, Kathleen J.
    Dobyns, William B.
    [J]. ANNALS OF NEUROLOGY, 2007, 62 (06) : 625 - 639
  • [3] Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance
    Barth, Peter G.
    Majoie, Charles B.
    Caan, MatthanW. A.
    Weterman, Marian A. J.
    Kyllerman, Marten
    Smit, Leo M. E.
    Kaplan, Richard A.
    Haas, Richard H.
    Baas, Frank
    Cobben, Jan-Maarten
    Poll-The, Bwee Tien
    [J]. BRAIN, 2007, 130 : 2258 - 2266
  • [4] JONES KL, 2006, SMITHS RECOGNIZABLE, P40
  • [5] Kjær I, 1999, AM J MED GENET, V82, P6, DOI 10.1002/(SICI)1096-8628(19990101)82:1<6::AID-AJMG2>3.0.CO
  • [6] 2-#
  • [7] Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
    Najm, Juliane
    Horn, Denise
    Wimplinger, Isabella
    Golden, Jeffrey A.
    Chizhikov, Victor V.
    Sudi, Jyotsna
    Christian, Susan L.
    Ullmann, Reinhard
    Kuechler, Alma
    Haas, Carola A.
    Flubacher, Armin
    Charnas, Lawrence R.
    Uyanik, Goekhan
    Frank, Ulrich
    Klopocki, Eva
    Dobyns, William B.
    Kutsche, Kerstin
    [J]. NATURE GENETICS, 2008, 40 (09) : 1065 - 1067
  • [8] TAMRAZ J, 1993, ANN GENET-PARIS, V36, P75
1