Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.
case_report · Level V
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- Record sourced from PubMed, PMID 34266921.
- Also identified by DOI 10.1212/WNL.0000000000012538.
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Abstract
Hereditary hyperekplexia is a rare neurologic disorder characterized by an exaggerated startle response with profound muscle stiffness.<sup>1,2</sup> Given the nature of the spells, this condition is often misdiagnosed as epilepsy. Mutations in glycine receptors and transporters are the primary cause of this syndrome.<sup>1</sup> We present an example of stimulus-induced hyperekplexia captured on video EEG in a 7-week-old girl with compound heterozygous variants in the presynaptic glycine transporter gene <i>SLC6A5</i>.
Medical subject headings
- Hyperekplexia
- Stiff-Person Syndrome