Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse

Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initiall...

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Published inFrontiers in pediatrics Vol. 10; p. 940103
Main Authors Aquilano, Giulia, Linnér, Agnes, Ygberg, Sofia, Stödberg, Tommy, Henckel, Ewa
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 28.07.2022
Subjects
lactic acidosis
Medicin och hälsovetenskap
neonatal encephalopathy
neonatal respiratory distress
PDE
Pediatrics
pyridoxine-dependent epilepsy
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Summary:Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initially missed or delayed. We report a fatal case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.
Bibliography:This article was submitted to Neonatology, a section of the journal Frontiers in Pediatrics
Edited by: Hans Fuchs, University of Freiburg Medical Center, Germany
Reviewed by: Brahim Tabarki Melaiki, University of Sousse, Tunisia; Mayank Priyadarshi, All India Institute of Medical Sciences Rishikesh, India
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2022.940103