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- Title
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.
- 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.
- Subjects
LEUKODYSTROPHY; NEUROLOGICAL errors; EPILEPSY; RARE diseases
- Publication
Clinical Case Reports, 2018, Vol 6, Issue 1, p170
- ISSN
2050-0904
- Publication type
Case Study
- DOI
10.1002/ccr3.1310