A Neonate with Exaggerated Startle and Tonic Spasms
| Autor: | Suresh Kumar Angurana, Jitendra Kumar Sahu, Shivan Keshavan, Renu Suthar, Lokesh Saini, Guruprasad Peruri |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Bradycardia medicine.medical_specialty business.industry Exaggerated startle response Apnea Neonatal onset 030105 genetics & heredity Audiology medicine.disease Startle reaction Tonic (physiology) 03 medical and health sciences Epilepsy 0302 clinical medicine Pediatrics Perinatology and Child Health medicine Neurology (clinical) Hyperekplexia medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Pediatric Neurology. 17:146-148 |
| ISSN: | 1875-9041 1304-2580 |
| Popis: | Hyperekplexia is a rare, potentially treatable inherited disorder of glycinergic neurotransmission, which is characterized by neonatal onset exaggerated startle response to somatosensory, auditory stimuli, and episodic tonic spasm. Prolonged tonic spasms can be life-threatening and associated with apnea and bradycardia. Awareness about this condition avoids misdiagnosis such as tonic seizures and epilepsy. We describe a term newborn with episodic tonic stiffness mistaken for seizures. Classical exaggerated startle reaction, positive head retraction response to glabellar tap, and characteristic video electroencephalogram confirmed the diagnosis. |
| Databáze: | OpenAIRE |
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