Abstract | BACKGROUND:
Urea cycle disorders encompass several enzyme deficiencies that can result in cerebral damage, with a wide clinical spectrum from asymptomatic to severe. OBJECTIVE: The goal of this study was to correlate brain MRI abnormalities in urea cycle disorders with clinical neurological sequelae to evaluate whether MRI abnormalities can assist in guiding difficult treatment decisions. MATERIALS AND METHODS: We performed a retrospective chart review of patients with urea cycle disorders and symptomatic hyperammonemia. Brain MRI images were reviewed for abnormalities that correlated with severity of clinical neurological sequelae. RESULTS: CONCLUSION: The pattern and extent of brain MRI abnormalities correlate with clinical neurological outcome in our case series. This suggests that brain MRI abnormalities may assist in determining prognosis and helping clinicians with subsequent treatment decisions.
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Authors | William R Bireley, Johan L K Van Hove, Renata C Gallagher, Laura Z Fenton |
Journal | Pediatric radiology
(Pediatr Radiol)
Vol. 42
Issue 4
Pg. 455-62
(Apr 2012)
ISSN: 1432-1998 [Electronic] Germany |
PMID | 21989980
(Publication Type: Case Reports, Journal Article)
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Topics |
- Brain
(pathology)
- Brain Diseases
(diagnosis, etiology)
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Infant, Newborn
- Magnetic Resonance Imaging
(methods)
- Male
- Nervous System Diseases
(diagnosis, etiology)
- Reproducibility of Results
- Sensitivity and Specificity
- Urea Cycle Disorders, Inborn
(complications, diagnosis)
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