Hyperekplexia or Epilepsy ? A Diagnostic Challenge In Infantile Apneic Event

  • Unique Paper ID: 174747
  • PageNo: 449-451
  • Abstract:
  • Background -Hyperekplexia is an often underrecognized motor disorder in infants that closely resembles epilepsy. It is characterized by recurrent and exaggerated startle responses, along with brief episodes of intense, generalized muscle stiffness (hypertonia) triggered by sudden auditory or tactile stimuli, often occurring from birth. Case presentation – A 4-month-old male infant presented with abnormal movements of the upper and lower limbs, associated with bluish discoloration of the face, lips, and body. These episodes occurred approximately 5-6 times per day, each lasting less than 2 minutes. The child also exhibited a history of exaggerated startle reflex. There was no improvement in the episodes following treatment with anti-seizure medications, including levetiracetam. However, a noticeable decrease in the frequency of episodes was observed after the initiation of clonazepam. Conclusion – This case report underscores the importance of considering hyperekplexia in the differential diagnosis of unexplained abnormal movements in infants and highlights the potential therapeutic role of clonazepam in managing this condition. Further investigation into the underlying genetic or neurophysiological mechanisms of hyperekplexia may enhance diagnostic and treatment approaches.

Copyright & License

Copyright © 2026 Authors retain the copyright of this article. This article is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

BibTeX

@article{174747,
        author = {Dr Nithya S Cherian and Dr Rupanagudi Tanvi and Dr Palle Nikitha},
        title = {Hyperekplexia or Epilepsy ? A Diagnostic Challenge In Infantile Apneic Event},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {11},
        number = {11},
        pages = {449-451},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=174747},
        abstract = {Background -Hyperekplexia is an often underrecognized motor disorder in infants that closely resembles epilepsy. It is characterized by recurrent and exaggerated startle responses, along with brief episodes of intense, generalized muscle stiffness (hypertonia) triggered by sudden auditory or tactile stimuli, often occurring from birth.
Case presentation – A 4-month-old male infant presented with abnormal movements of the upper and lower limbs, associated with bluish discoloration of the face, lips, and body. These episodes occurred approximately 5-6 times per day, each lasting less than 2 minutes. The child also exhibited a history of exaggerated startle reflex. There was no improvement in the episodes following treatment with anti-seizure medications, including levetiracetam. However, a noticeable decrease in the frequency of episodes was observed after the initiation of clonazepam.
Conclusion – This case report underscores the importance of considering hyperekplexia in the differential diagnosis of unexplained abnormal movements in infants and highlights the potential therapeutic role of clonazepam in managing this condition. Further investigation into the underlying genetic or neurophysiological mechanisms of hyperekplexia may enhance diagnostic and treatment approaches.},
        keywords = {},
        month = {March},
        }

Cite This Article

Cherian, D. N. S., & Tanvi, D. R., & Nikitha, D. P. (2025). Hyperekplexia or Epilepsy ? A Diagnostic Challenge In Infantile Apneic Event. International Journal of Innovative Research in Technology (IJIRT), 11(11), 449–451.

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