Myoclonic Seizures and Lactic Acidemia in a Term Newborn Born with no History of Asphyxia

We here report an unusual case of a term neonate who presented with myoclonic seizures and lactic acidemia at 30 hours of life, who was later on diagnosed as a case of pyridoxine dependant epilepsy. Pyridoxine dependant epilepsy is one of the rare but easily treatable causes of refractory neonatal s...

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Published inJournal of clinical and diagnostic research Vol. 12; no. 2; pp. SD04 - SD05
Main Authors Choudhary, Sushil, Ramaswamy, Viraraghavan Vadakkencherry, Nangia, Sushma, Saili, Arvind
Format Journal Article
LanguageEnglish
Published JCDR Research and Publications Private Limited 01.02.2018
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Summary:We here report an unusual case of a term neonate who presented with myoclonic seizures and lactic acidemia at 30 hours of life, who was later on diagnosed as a case of pyridoxine dependant epilepsy. Pyridoxine dependant epilepsy is one of the rare but easily treatable causes of refractory neonatal seizures. Failure to diagnose and treat this condition early would result in devastating neurodevelopmental outcomes for the surviving newborn.
ISSN:2249-782X
0973-709X
DOI:10.7860/JCDR/2018/31090.11223