期刊
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
卷 15, 期 1, 页码 74-77出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2010.03.011
关键词
Pyridoxine-dependent; Epilepsy; Neonates; Seizure; Compound heterozygote
Purpose: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease has to be diagnosed early and treated to improve outcome. We report on two new mutations that open new prenatal prospects and suggest a new diagnostic procedure. Case report: We describe PDE in a neonate carrying two novel mutations in the ALDH7A1 gene: c.[852_856delCTTAG] + [1230C > A]; p.[(Phe410Leu)] + p.[(Leu285CysfsX26)]. This case also illustrates that diagnosis could have been made without any pyridoxine withdrawal, thanks to the measurement of biomarkers. The patient was successfully treated with pyridoxine supplementation and currently shows normal neurological development. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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