Open AccessCongenital methemoglobinemia type II in a 5‐year‐old boy
Author(s) -
Mannino Elizabeth A.,
Pluim Thomas,
Wessler Jacob,
Cho Megan T.,
Juusola Jane,
Schrier Vergano Samantha A.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1310
Subject(s) - medicine , methemoglobinemia , epilepsy , pediatrics , anesthesia , psychiatry
Key Clinical Message 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.