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Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Publication ,  Journal Article
Holder, JL; Agadi, S; Reese, W; Rehder, C; Quach, MM
Published in: JAMA Neurol
June 2014

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.

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Published In

JAMA Neurol

DOI

EISSN

2168-6157

Publication Date

June 2014

Volume

71

Issue

6

Start / End Page

782 / 784

Location

United States

Related Subject Headings

  • Sulfite Oxidase
  • Stiff-Person Syndrome
  • Spasms, Infantile
  • Seizures
  • Oxidoreductases Acting on Sulfur Group Donors
  • Mutation
  • Male
  • Magnetic Resonance Imaging
  • Infant, Newborn
  • Humans
 

Citation

APA
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ICMJE
MLA
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Holder, J. L., Agadi, S., Reese, W., Rehder, C., & Quach, M. M. (2014). Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. JAMA Neurol, 71(6), 782–784. https://doi.org/10.1001/jamaneurol.2013.5083
Holder, J Lloyd, Satish Agadi, William Reese, Catherine Rehder, and Michael M. Quach. “Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.JAMA Neurol 71, no. 6 (June 2014): 782–84. https://doi.org/10.1001/jamaneurol.2013.5083.
Holder JL, Agadi S, Reese W, Rehder C, Quach MM. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. JAMA Neurol. 2014 Jun;71(6):782–4.
Holder, J. Lloyd, et al. “Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.JAMA Neurol, vol. 71, no. 6, June 2014, pp. 782–84. Pubmed, doi:10.1001/jamaneurol.2013.5083.
Holder JL, Agadi S, Reese W, Rehder C, Quach MM. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. JAMA Neurol. 2014 Jun;71(6):782–784.

Published In

JAMA Neurol

DOI

EISSN

2168-6157

Publication Date

June 2014

Volume

71

Issue

6

Start / End Page

782 / 784

Location

United States

Related Subject Headings

  • Sulfite Oxidase
  • Stiff-Person Syndrome
  • Spasms, Infantile
  • Seizures
  • Oxidoreductases Acting on Sulfur Group Donors
  • Mutation
  • Male
  • Magnetic Resonance Imaging
  • Infant, Newborn
  • Humans