Journal of the Bahrain Medical Society
Year 2022, Volume 34, Issue 3, Pages 52-56
http://doi.org/10.26715/jbms.34_3_9Lateefa Almutawea1*, Ayman Khalil2
1Pediatric Resident, Pediatrics and Neonatology Department, King Hamad University Hospital, Bahrain; Tel.: (+973) 36306290; Email: latifa.almutawea@gmail.com
2Consultant, Pediatric Neurology, Department of Clinical Neurosciences, Salmaniya Medical Complex, Bahrain; Tel.: (+973) 39900075; Email: aymanali131@gmail.com
*Corresponding author: Dr. Lateefa Almutawea, Pediatric Resident, Pediatrics and Neonatology Department, King Hamad University Hospital, Bahrain; Tel.: (+973) 36306290; Email: latifa.almutawea@gmail.com
Received date: January 01, 2022; Accepted date: March 01, 2022; Published date: September 30, 2022
For tables and figures, refer to PDF.
Abstract
Pyridoxal phosphate-responsive neonatal epileptic encephalopathy due to pyridoxamine-5-primephosphate oxidase deficiency is a rare cause of epileptic encephalopathy. A neonate with this condition presents early in life with refractory seizures which does not respond to conventional anti-epileptic medications, depressed level of consciousness, and severe psychomotor retardation if left untreated. Early initiation of active cofactor pyridoxal-5’-phophate can be curative. We are describing a rare neurometabolic condition; the first case in the Kingdom of Bahrain to the best of our knowledge.
Keywords: Pyridoxal-5’-phosphate, pyridoxamine 5’-phosphate oxidase, pyridoxine dependent epilepsy, epileptic encephalopathy, neonatal seizure