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Related Experiment Videos

Folinic acid-responsive neonatal seizures.

O A Torres1, V S Miller, N M Buist

  • 1Division of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, USA.

Journal of Child Neurology
|August 24, 1999
PubMed
Summary

Folinic acid effectively treats intractable neonatal seizures in infants, even those unresponsive to other therapies. Early diagnosis and folinic acid treatment are crucial for managing this rare neurological condition.

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Area of Science:

  • Neurology
  • Biochemistry
  • Genetics

Background:

  • Neonatal seizures represent a significant clinical challenge, often refractory to standard anticonvulsant therapies.
  • Intractable seizures in neonates can lead to severe neurological deficits and long-term developmental delay.

Observation:

  • Three cases of neonatal seizures unresponsive to phenobarbital, pyridoxine, and valproate are presented.
  • Folinic acid administration led to rapid seizure cessation in all three infants.
  • A novel unidentified compound in cerebrospinal fluid was identified as a potential biomarker.

Findings:

  • Folinic acid is a highly effective treatment for specific forms of intractable neonatal seizures.
  • The unidentified CSF compound serves as a reliable diagnostic marker for this condition.

Related Experiment Videos

  • Patients exhibit global developmental delay, with neuroimaging revealing white matter abnormalities.

    • Implications:

    • Cerebrospinal fluid analysis for the unidentified compound should be considered in neonates with unexplained intractable seizures.
    • A trial of folinic acid is recommended for neonates with suspected cases of this condition.
    • This study highlights a treatable metabolic etiology for severe early-onset epilepsy.