Miller-Dieker Syndrome Associated With Tight Filum Terminale

Chen, Sheing-Jye; Peng, Steven S.F.; Kuo, Meng-Fai; Lee, Wang-Tso; Liang, Jao-Shwann

doi:10.1016/j.pediatrneurol.2005.06.017

« Previous Next »Pediatric Neurology
Volume 34, Issue 3 , Pages 228-230, March 2006

Miller-Dieker Syndrome Associated With Tight Filum Terminale

Sheing-Jye Chen, MD
- Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan
Steven S.F. Peng, MD
- Department of Radiology, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan
Meng-Fai Kuo, MD, PhD
- Department of Surgery, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan
Wang-Tso Lee, MD, PhD
- Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan
Jao-Shwann Liang, MD
- Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan
- Communications should be addressed to: Dr. Liang; Department of Pediatrics; Far Eastern Memorial Hospital; No. 21, Nanya South R.; Sec. 2, Panchiao City; Taipei, Taiwan 22060

Received 18 January 2005; accepted 22 June 2005.

An 8-year-old female was diagnosed with Miller-Dieker 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.