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Start Over Author "Mannino, Elizabeth" Topic cyanosis
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1. Congenital methemoglobinemia type II in a 5‐year‐old boy.

Author

Mannino, Elizabeth A., Pluim, Thomas, Wessler, Jacob, Cho, Megan T., Juusola, Jane, and Schrier Vergano, Samantha A.

Subjects
*LEUKODYSTROPHY, *NEUROLOGICAL errors, *EPILEPSY, *RARE diseases
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, 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. [ABSTRACT FROM AUTHOR]

Published
2018
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