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  • Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic

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Paediatrics
Neonatal hyperekplexia: a non-epileptic paroxysmal movement disorder with a novel homozygous mutation in the GLRB gene, a seizure mimic
  1. Hera Fatima,
  2. Shabnam Shabnam,
  3. Shalini Tripathi and
  4. Mala Kumar
  1. Paediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Hera Fatima; hera0267{at}gmail.com

Abstract

A male baby born out of consanguineous marriage (third degree) to a primigravida mother presented to our hospital on day 21 of life as his third hospitalisation with jerky movements, respiratory distress and refusal to feed. The baby had blood culture-positive sepsis, which was treated adequately. He was given antiseizure therapy for jerky movements, but there was no response to multiple antiseizure therapy, and then pyridoxine was added. A significant response was noted with the addition of clonazepam. Neuroimaging and electroencephalogram were normal. The whole exome sequencing suggested a homozygous mutation (frameshift variant c.97delA in exon 2 of the GLRB gene) associated with hyperekplexia 2, resulting in the amino acid substitution p.Lys34fs*27.

  • Epilepsy and seizures
  • Movement disorders (other than Parkinsons)
  • Neuro genetics
  • Neonatal and paediatric intensive care

https://doi.org/10.1136/bcr-2023-257260

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: HF and SS. The following authors gave the final approval of the manuscript: ST and MK.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.