Abstract | BACKGROUND: CASE: This 3800 g white boy was born at 40 weeks 4 days gestation to a 25-year-old mother. He was delivered at home to a certified midwife with no reported complications. He was doing well until day of life 4, when the mother reported he would no longer latch to feed. He was observed to have markedly elevated ammonia levels and ultimately diagnosed with citrullinemia type I. The initial magnetic resonance image was markedly abnormal. After aggressive medical management, his repeat magnetic resonance image revealed marked improvement in the acute setting. CONCLUSION: Early and aggressive management of hyperammonemia can result in improved magnetic resonance imaging findings in the acute setting. It is too early to know if this will translate to an improved clinical outcome. Clinical suspicion must remain high for urea cycle disorders in neonates with magnetic resonance image changes similar to those resulting from hypoxic-ischemic injury.
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Authors | John Ruder, Joseph Legacy, George Russo, Ronald Davis |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 51
Issue 4
Pg. 553-6
(Oct 2014)
ISSN: 1873-5150 [Electronic] United States |
PMID | 25266618
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Topics |
- Brain
(pathology, physiopathology)
- Citrullinemia
(blood, diagnosis)
- Electroencephalography
- Humans
- Hyperammonemia
(blood, diagnosis, drug therapy)
- Infant, Newborn
- Infant, Newborn, Diseases
(blood, diagnosis)
- Magnetic Resonance Imaging
- Male
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