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Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene
  1. Naveen Parkash Gupta1,
  2. Vinita Verma2,
  3. Saurabh Chopra3 and
  4. Vivek Choudhury4
  1. 1Neonatology, Mahukar Rainbow Children's Hospital, Delhi, India
  2. 2Neonatology, Rosewalk Healthcare, New Delhi, India
  3. 3Pediatrics Neurology, Max Super Speciality Hospital Vaishali, Ghaziabad, India
  4. 4Neonatology, Apollo Cradle, Motinagar, New Delhi, India
  1. Correspondence to Dr Naveen Parkash Gupta; drgupta.naveen{at}gmail.com

Abstract

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the β subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.

  • epilepsy and seizures
  • movement disorders (other than Parkinsons)
  • neuro genetics

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Footnotes

  • Contributors NPG was involved in the care of the child and writing the manuscript. VV helped NPG in writing the manuscript. SC was involved in making diagnosis and guiding treatment. VC was involved in the care of the child.

  • 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.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

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