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Congenital methemoglobinemia type II in a 5‐year‐old boy

Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on th...

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Detalles Bibliográficos
Autores principales: Mannino, Elizabeth A., Pluim, Thomas, Wessler, Jacob, Cho, Megan T., Juusola, Jane, Schrier Vergano, Samantha A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771927/
https://www.ncbi.nlm.nih.gov/pubmed/29375859
http://dx.doi.org/10.1002/ccr3.1310
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author Mannino, Elizabeth A.
Pluim, Thomas
Wessler, Jacob
Cho, Megan T.
Juusola, Jane
Schrier Vergano, Samantha A.
author_facet Mannino, Elizabeth A.
Pluim, Thomas
Wessler, Jacob
Cho, Megan T.
Juusola, Jane
Schrier Vergano, Samantha A.
author_sort Mannino, Elizabeth A.
collection PubMed
description Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger‐scale genetic studies.
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spelling pubmed-57719272018-01-26 Congenital methemoglobinemia type II in a 5‐year‐old boy Mannino, Elizabeth A. Pluim, Thomas Wessler, Jacob Cho, Megan T. Juusola, Jane Schrier Vergano, Samantha A. Clin Case Rep Case Reports Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger‐scale genetic studies. John Wiley and Sons Inc. 2017-12-07 /pmc/articles/PMC5771927/ /pubmed/29375859 http://dx.doi.org/10.1002/ccr3.1310 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Mannino, Elizabeth A.
Pluim, Thomas
Wessler, Jacob
Cho, Megan T.
Juusola, Jane
Schrier Vergano, Samantha A.
Congenital methemoglobinemia type II in a 5‐year‐old boy
title Congenital methemoglobinemia type II in a 5‐year‐old boy
title_full Congenital methemoglobinemia type II in a 5‐year‐old boy
title_fullStr Congenital methemoglobinemia type II in a 5‐year‐old boy
title_full_unstemmed Congenital methemoglobinemia type II in a 5‐year‐old boy
title_short Congenital methemoglobinemia type II in a 5‐year‐old boy
title_sort congenital methemoglobinemia type ii in a 5‐year‐old boy
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771927/
https://www.ncbi.nlm.nih.gov/pubmed/29375859
http://dx.doi.org/10.1002/ccr3.1310
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