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Urea cycle defect: a case with MR and CT findings resembling infarct
1Department of Radiology, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey.
Pediatric Radiology
|January 1, 1991
Summary
A child presented with vomiting and confusion due to hyperammonemia. This was caused by a partial ornithine transcarbamylase deficiency, a urea cycle defect, not an infarct.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Urea cycle defects are inherited metabolic disorders.
- Hyperammonemia can lead to severe neurological complications in children.
- Ornithine transcarbamylase deficiency is the most common urea cycle disorder.
Observation:
- A 2.5-year-old girl exhibited recurrent vomiting and impaired consciousness.
- Laboratory tests revealed significant hyperammonemia.
- Brain imaging (MR and CT) showed findings suggestive of an infarct.
Findings:
- The patient was diagnosed with a partial ornithine transcarbamylase deficiency.
- This urea cycle defect was identified as the cause of hyperammonemia.
- The imaging findings were atypical for a standard infarct and consistent with metabolic encephalopathy.
Implications:
- Highlights the importance of considering metabolic disorders in pediatric neurological emergencies.
- Underscores the need for early diagnosis and management of urea cycle defects.
- Emphasizes that imaging findings can mimic other conditions, necessitating comprehensive diagnostic approaches.