Miller-Dieker syndrome associated with tight filum terminale

Pediatric Neurology
Sheing-Jye ChenJao-Shwann Liang

Abstract

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.

References

Feb 1, 1966·Neurology·J R Daube, S M Chou
Dec 15, 1993·JAMA : the Journal of the American Medical Association·W B DobynsD H Ledbetter
Apr 13, 2002·Neurosurgery·Loi K PhuongCorey Raffel
Oct 1, 1963·Neurology·J Q MILLER

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Citations

Sep 14, 2007·Clinical Genetics·Elisabetta LenziniVanna Pecile

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