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Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene.
Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene.
- Source :
-
BMJ case reports [BMJ Case Rep] 2020 Dec 15; Vol. 13 (12). Date of Electronic Publication: 2020 Dec 15. - Publication Year :
- 2020
-
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.<br />Competing Interests: Competing interests: None declared.<br /> (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
- Subjects :
- Anticonvulsants therapeutic use
Child, Preschool
Clonazepam therapeutic use
Diagnosis, Differential
Diagnostic Errors
Humans
Hyperekplexia physiopathology
Hyperkinesis genetics
Hyperkinesis physiopathology
Infant, Newborn
Male
Reflex, Abnormal genetics
Reflex, Startle genetics
Hyperekplexia diagnosis
Hyperekplexia genetics
Mutation, Missense genetics
Receptors, Glycine genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 13
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 33323420
- Full Text :
- https://doi.org/10.1136/bcr-2020-236152