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Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations

Ersida Buraniqi1, Hsuan-Tung Lee2, Kuntal Sen2

  • 1Department of Neurology, Children's National Hospital, Washington, DC, USA.

Journal of Child Neurology
|November 12, 2025
PubMed

Insights

Infantile epileptic spasms syndrome (IES) in infants with metabolic disorders requires tailored treatment. Managing these complex cases involves addressing both epilepsy and underlying metabolic vulnerabilities for improved outcomes.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Infantile epileptic spasms syndrome (IES) is a severe early-onset epileptic encephalopathy.
  • The link between IES and inborn errors of metabolism (IEM) is often overlooked.
  • Metabolic decompensation complicates treatment strategies for IES in affected infants.

Purpose of the Study:

  • To present individualized treatment approaches for two patients with IES and IEM.
  • To highlight the challenges in managing IES when co-occurring with metabolic vulnerabilities.

Main Methods:

  • Case report detailing two patients with IES and diagnosed IEM.
  • Description of pharmacological and surgical interventions used.
  • Monitoring of seizure control and metabolic status.

Main Results:

  • Patient 1 (propionic acidemia) achieved seizure freedom post-liver transplant and vigabatrin initiation.
  • Patient 2 (ornithine transcarbamylase deficiency) showed transient seizure control with vigabatrin and levetiracetam, followed by spasm cessation with enteral prednisolone.

Conclusions:

  • Managing IES in patients with IEM is complex and requires personalized therapeutic strategies.
  • Early recognition and management of metabolic derangements are crucial for successful treatment of IES.
  • Multidisciplinary care is essential for optimizing outcomes in these high-risk infants.

Keywords:
inborn errors of metabolisminfantile spasm treatmentornithine transcarbamylase (OTC) deficiencypropionic acidemiasteroidsurea cycle disorders

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