KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate.
| Autor: | Chow CK; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, HKSAR, Hong Kong., Luk HM; Clinical Genetic Service, Department of Health, HKSAR, Hong Kong., Wong SN; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, HKSAR, Hong Kong. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric genetics [J Pediatr Genet] 2020 Dec 07; Vol. 12 (1), pp. 90-94. Date of Electronic Publication: 2020 Dec 07 (Print Publication: 2023). |
| DOI: | 10.1055/s-0040-1721384 |
| Abstrakt: | KCNQ2 mutations encompass a wide range of phenotypes, ranging from benign familial neonatal seizure to a clinical spectrum of early-onset epileptic encephalopathy that occurs in the early neonatal period. We report an infant with KCNQ2 encephalopathy presenting as neonatal seizure, initially controlled by two anticonvulsants. Electroencephalogram (EEG) showed repetitive multifocal epileptiform discharges, which remained similar after administration of intravenous pyridoxine injection. Seizure recurred at the age of 3 months preceded by an episode of minor viral infection, which occurred multiple times per day. No significant change in seizure frequency was observed after 5-day oral pyridoxine trial, but subsequently, there was dramatic seizure improvement with oral pyridoxal-5'-phosphate (PLP). We hope to alert clinicians that in patients with neonatal epileptic encephalopathy, particularly with known KCNQ2 mutations, intravenous injection of pyridoxine (preferably with EEG monitoring), followed by both oral trial of pyridoxine and PLP should be considered. KCNQ2 mutations should also be considered in vitamin B6-responsive patients. Competing Interests: Conflict of Interest None declared. (Thieme. All rights reserved.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|