Pyridoxine-dependent seizures, clinical and therapeutic aspects

Détails

ID Serval
serval:BIB_02B60FC0026E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Pyridoxine-dependent seizures, clinical and therapeutic aspects
Périodique
European Journal of Pediatrics
Auteur(s)
Haenggeli  C. A., Girardin  E., Paunier  L.
ISSN
0340-6199
Statut éditorial
Publié
Date de publication
05/1991
Peer-reviewed
Oui
Volume
150
Numéro
7
Pages
452-5
Notes
Case Reports
Journal Article
Review --- Old month value: May
Résumé
Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of prenatal or neonatal onset, psychomotor retardation and death in untreated patients. Treatment requires life-long supplementation with pyridoxine (vitamin B6). The underlying defect is unknown, and there is no biological marker for the disease. Clinical diagnosis is often delayed and severe neurological sequelae are common. This article summarizes both clinical and therapeutic aspects.
Mots-clé
Female Humans Infant Infant, Newborn Mental Retardation/etiology Pyridoxine/*therapeutic use Seizures/complications/diagnosis/*drug therapy
Pubmed
Web of science
Création de la notice
15/01/2008 15:28
Dernière modification de la notice
03/03/2018 13:18
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