Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

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  • Additional Information
    • Source:
      Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE
    • Publication Information:
      Original Publication: Chicago, IL : American Medical Association, [2013]-
    • Subject Terms:
      Amino Acid Metabolism, Inborn Errors/*genetics ; Mutation/*genetics ; Oxidoreductases Acting on Sulfur Group Donors/*genetics ; Seizures/*genetics ; Spasms, Infantile/*genetics ; Stiff-Person Syndrome/*genetics ; Sulfite Oxidase/*deficiency; Amino Acid Metabolism, Inborn Errors/diagnosis ; Electroencephalography/methods ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging/methods ; Male ; Seizures/etiology ; Spasms, Infantile/etiology ; Stiff-Person Syndrome/etiology ; Sulfite Oxidase/genetics
    • Abstract:
      Importance: Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a corresponding hypsarrhythmia pattern on electroencephalogram have never been reported. In addition, the nonepileptic paroxysmal movement disorder hyperekplexia has not previously been reported with ISOD.
      Observations: We describe an infant with ISOD who initially presented with neonatal seizures, diffusion restriction noted on magnetic resonance imaging, and elevated serum S-sulfocysteine consistent with ISOD. A homozygous mutation in the SUOX gene was identified, confirming the diagnosis. Uniquely, this patient developed a profound accentuated startle response that did not have a corresponding electrographic change on electroencephalogram consistent with hyperekplexia. This was followed by a change in the child's electroencephalogram to the chaotic pattern of hypsarrhythmia and brief tonic seizures with attenuation of the hypsarrhythmia pattern characteristic of infantile spasms.
      Conclusions and Relevance: The evolution of seizures associated with ISOD is poorly characterized because of the small number of patients. We report what we believe to be the first case of a child with ISOD who developed infantile spasms and hyperekplexia. This expands the phenotypes associated with ISOD and also should caution clinicians to not assume that all abnormal movements are seizures.
    • Accession Number:
      EC 1.8.- (Oxidoreductases Acting on Sulfur Group Donors)
      EC 1.8.3.1 (SUOX protein, human)
      EC 1.8.3.1 (Sulfite Oxidase)
    • Subject Terms:
      Sulfite oxidase deficiency
    • Publication Date:
      Date Created: 20140424 Date Completed: 20140815 Latest Revision: 20140610
    • Publication Date:
      20231215
    • Accession Number:
      10.1001/jamaneurol.2013.5083
    • Accession Number:
      24756183