Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.

Abstract

Pyridox(am)ine-5-phosphate oxidase deficiency is an autosomal recessive disorder of pyridoxine metabolism. Intractable neonatal epileptic encephalopathy is the classical presentation. Pyridoxal-5-phosphate or pyridoxine supplementation improves symptoms. We report a patient with myoclonic and tonic seizures at the age of 1 hour. Pyridoxal-5-phosphate was started on the first day of life and seizures stopped at the age of 3 days, but encephalopathy persisted for 4 weeks. She had normal neurodevelopmental outcome at the age of 12 months on pyridoxal-5-phosphate monotherapy. She had novel homozygous pathogenic frameshift mutation (c.448_451del;p.Pro150Argfs*27) in the PNPO gene. Long-lasting encephalopathy despite well-controlled clinical seizures does neither confirm nor exclude pyridox(am)ine-5-phosphate oxidase deficiency. Normal neurodevelopmental outcome of our patient emphasizes the importance of pyridoxal-5-phosphate treatment. Pyridox(am)ine-5-phosphate oxidase deficiency should be included in the differential diagnosis of Ohtahara syndrome and neonatal myoclonic encephalopathy as a treatable underlying cause. In addition, we reviewed the literature for pyridox(am)ine-5-phosphate oxidase deficiency and summarized herein all confirmed cases.

• Authors: Andrea Guerin, Aly S Aziz, Carly Mutch, Jillian Lewis, Cristina Y Go, Saadet Mercimek-Mahmutoglu
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 9 Pg. 1218-25 (Aug 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25296925 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © The Author(s) 2014.

Chemical References

• Pyridoxaminephosphate Oxidase

Topics

• Brain Diseases, Metabolic (complications, therapy)
• Electroencephalography
• Female
• Humans
• Hypoxia-Ischemia, Brain (complications, therapy)
• Infant
• PubMed (statistics & numerical data)
• Pyridoxaminephosphate Oxidase (deficiency)
• Seizures (complications, therapy)
• Spasms, Infantile (etiology)