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Related Experiment Videos

Perinatal pathology casebook

J A Gutierrez1, E J Truemper, E M Burton

  • 1Department of Pediatrics, Medical College of Georgia, Augusta, 30912, USA.

Journal of Perinatology : Official Journal of the California Perinatal Association
|January 1, 1996
PubMed
Summary
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Citrullinemia, a rare metabolic disorder, can present with severe neurological issues. This case highlights subarachnoid hemorrhage as an early sign in an infant with this urea cycle defect.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Pediatric Neurology

Background:

  • Citrullinemia is a rare inborn error of metabolism due to argininosuccinic acid synthetase deficiency.
  • It leads to elevated plasma ammonia, citrulline, and glutamine with normal acid-base balance.
  • Neurological symptoms range from irritability to apnea and death, with cerebral edema and neuronal necrosis common at autopsy.

Observation:

  • A case of fulminant citrullinemia in an infant is presented.
  • Pathological findings included diffuse cerebral edema but lacked typical neonatal urea cycle defect metabolic derangements.
  • Subarachnoid hemorrhage was identified early in the clinical course.

Findings:

  • The infant's presentation differed from classic citrullinemia due to early subarachnoid hemorrhage.

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  • This is the first reported observation of subarachnoid hemorrhage in an infant with a urea cycle defect.
  • Diffuse cerebral edema was a significant pathological finding.

    • Implications:

    • This case expands the understanding of urea cycle defect presentations in infants.
    • Early identification of subarachnoid hemorrhage may be crucial in diagnosing atypical citrullinemia.
    • Further research is needed to explore the link between urea cycle defects and cerebrovascular events.