Urea cycle defect: a case with MR and CT findings resembling infarct

Pediatr Radiol. 1991;21(8):594-5. doi: 10.1007/BF02012608.

Abstract

A 2 1/2 year old girl was admitted to the hospital because of recurrent vomitting, impaired consciousness, and hyperammonemia. MR and CT findings resembled an infarct, but she was found to have a defect in the urea cycle, partial ornithine transcarbamylase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Ammonia / blood
  • Cerebral Infarction / diagnosis*
  • Cerebral Infarction / etiology
  • Cerebral Infarction / metabolism
  • Child, Preschool
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Tomography, X-Ray Computed
  • Urea / metabolism*

Substances

  • Ammonia
  • Urea