Pyridoxine-dependent seizures, clinical and therapeutic aspects

Details

Serval ID
serval:BIB_02B60FC0026E
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Pyridoxine-dependent seizures, clinical and therapeutic aspects
Journal
European Journal of Pediatrics
Author(s)
Haenggeli  C. A., Girardin  E., Paunier  L.
ISSN
0340-6199
Publication state
Published
Issued date
05/1991
Peer-reviewed
Oui
Volume
150
Number
7
Pages
452-5
Notes
Case Reports
Journal Article
Review --- Old month value: May
Abstract
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.
Keywords
Female Humans Infant Infant, Newborn Mental Retardation/etiology Pyridoxine/*therapeutic use Seizures/complications/diagnosis/*drug therapy
Pubmed
Web of science
Create date
15/01/2008 14:28
Last modification date
20/08/2019 12:24
Usage data