Abstract | IMPORTANCE: 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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Authors | J Lloyd Holder Jr, Satish Agadi, William Reese, Catherine Rehder, Michael M Quach |
Journal | JAMA neurology
(JAMA Neurol)
Vol. 71
Issue 6
Pg. 782-4
(Jun 2014)
ISSN: 2168-6157 [Electronic] United States |
PMID | 24756183
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Oxidoreductases Acting on Sulfur Group Donors
- SUOX protein, human
- Sulfite Oxidase
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Topics |
- Amino Acid Metabolism, Inborn Errors
(diagnosis, genetics)
- Electroencephalography
(methods)
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging
(methods)
- Male
- Mutation
(genetics)
- Oxidoreductases Acting on Sulfur Group Donors
(genetics)
- Seizures
(etiology, genetics)
- Spasms, Infantile
(etiology, genetics)
- Stiff-Person Syndrome
(etiology, genetics)
- Sulfite Oxidase
(deficiency, genetics)
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