Miller-Dieker syndrome associated with tight filum terminale.
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.
Chen
Sheing-Jye
SJ
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Peng
Steven S F
SS
Kuo
Meng-Fai
MF
Lee
Wang-Tso
WT
Liang
Jao-Shwann
JS
D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002420:Cauda Equina / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008159:Lumbar Vertebrae / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics*; D009436:Neural Tube Defects / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D012447:Sacrum / Q000473:pathology; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic / Q000175:diagnosis / Q000209:etiology; D014552:Urinary Tract Infections / Q000175:diagnosis / Q000209:etiology; D014563:Urodynamics / Q000502:physiology