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An inborn error of metabolism presenting as hypoxic-ischemic insult

Wafaa M Eyaid1, Doha M Al-Nouri, Mohamed S Rashed

  • 1Pediatrics Department, King Abdulaziz Medical City, King Fahad National Guard Hospital, PO Box 22490, Riyadh 11426, Kingdom of Saudi Arabia.

Pediatric Neurology
|January 25, 2005
PubMed

Insights

Intractable seizures in children can be caused by hypoxic-ischemic injury. One case also revealed isolated sulfite oxidase deficiency, a rare metabolic disorder.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Neuroimaging

Background:

  • Intractable seizures are a challenging clinical problem in pediatric neurology.
  • Hypoxic-ischemic injury is a known cause of neurological deficits in children.
  • Metabolic disorders can present with severe neurological symptoms.

Observation:

  • Two pediatric cases presented with intractable seizures as the primary symptom.
  • The first case, a 1-year-old female, showed signs of profound hypoxic-ischemic brain injury.
  • The second case, an 8-year-old male, exhibited microcephaly, spastic quadriparesis, and lens dislocation, with imaging consistent with hypoxic-ischemic injury.

Findings:

  • Metabolic evaluation was inconclusive for the first case.
  • Brain MRI in the first case indicated severe hypoxic-ischemic injury.
  • Brain CT in the second case revealed white and cortical matter lesions consistent with hypoxic-ischemic injury.
  • Urinalysis in the second case identified isolated sulfite oxidase deficiency.

Implications:

  • This case report highlights the importance of considering both hypoxic-ischemic injury and rare metabolic disorders in the differential diagnosis of intractable seizures.
  • Early identification of sulfite oxidase deficiency is crucial for timely management and intervention.
  • Neuroimaging plays a vital role in characterizing brain injury patterns in pediatric epilepsy.

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