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

Authors :
Mannino, Elizabeth A.
Pluim, Thomas
Wessler, Jacob
Cho, Megan T.
Juusola, Jane
Schrier Vergano, Samantha A.
Source :
Clinical Case Reports. Jan2018, Vol. 6 Issue 1, p170-178. 9p.
Publication Year :
2018

Abstract

Key Clinical Message: Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, <italic>CYB5R3</italic>, 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20500904
Volume :
6
Issue :
1
Database :
Academic Search Index
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
127390717
Full Text :
https://doi.org/10.1002/ccr3.1310