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

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.

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.

Source: Clinical Case Reports - December 1, 2017 Category: General Medicine Authors: Elizabeth A. Mannino, Thomas Pluim, Jacob Wessler, Megan T. Cho, Jane Juusola, Samantha A. Schrier Vergano Tags: Case Report Source Type: research