Miller-Dieker syndrome associated with tight filum terminale

被引:2
|
作者
Chen, SJ
Peng, SSF
Kuo, MF
Lee, WT
Liang, JS
机构
[1] Far Eastern Mem Hosp, Dept Pediat, Taipei 22060, Taiwan
[2] Natl Taiwan Univ, Coll Med, Dept Pediat, Natl Taiwan Univ Hosp, Taipei, Taiwan
[3] Natl Taiwan Univ, Coll Med, Dept Radiol, Natl Taiwan Univ Hosp, Taipei, Taiwan
[4] Natl Taiwan Univ, Coll Med, Dept Surg, Natl Taiwan Univ Hosp, Taipei, Taiwan
关键词
D O I
10.1016/j.pediatrneurol.2005.06.017
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
An 8-year-old female was diagnosed with MillerDicker syndrome with typical facial presentation. Brain magnetic resonance imaging disclosed lissencephaly, and chromosome study revealed 17p13.3 deletion. She developed infantile spasms at an early age, and her seizures were poorly controlled by multiple antiepileptics. Recurrent urinary tract infections were diagnosed during routine out-patient department follow-up. Urodynamic study disclosed a neurogenic bladder. Spinal magnetic resonance imaging revealed a tethered cord resulting from tight filum terminale, and untethering surgery was performed. Four months after the surgery, repeated urine cultures indicated that she was free from the urinary tract infection. Urodynamic study after untethering surgery demonstrated improved compliance of the urinary bladder. (c) 2006 by Elsevier Inc. All rights reserved.
引用
收藏
页码:228 / 230
页数:3
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