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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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Detalles Bibliográficos
Autores principales: Aquilano, Giulia, Linnér, Agnes, Ygberg, Sofia, Stödberg, Tommy, Henckel, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366515/
https://www.ncbi.nlm.nih.gov/pubmed/35967578
http://dx.doi.org/10.3389/fped.2022.940103
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author Aquilano, Giulia
Linnér, Agnes
Ygberg, Sofia
Stödberg, Tommy
Henckel, Ewa
author_facet Aquilano, Giulia
Linnér, Agnes
Ygberg, Sofia
Stödberg, Tommy
Henckel, Ewa
author_sort Aquilano, Giulia
collection PubMed
description 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.
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spelling pubmed-93665152022-08-12 Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse Aquilano, Giulia Linnér, Agnes Ygberg, Sofia Stödberg, Tommy Henckel, Ewa Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-07-28 /pmc/articles/PMC9366515/ /pubmed/35967578 http://dx.doi.org/10.3389/fped.2022.940103 Text en Copyright © 2022 Aquilano, Linnér, Ygberg, Stödberg and Henckel. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Aquilano, Giulia
Linnér, Agnes
Ygberg, Sofia
Stödberg, Tommy
Henckel, Ewa
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
title Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
title_full Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
title_fullStr Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
title_full_unstemmed Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
title_short Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
title_sort case report: fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366515/
https://www.ncbi.nlm.nih.gov/pubmed/35967578
http://dx.doi.org/10.3389/fped.2022.940103
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