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Congenital methemoglobinemia type II in a 5-year-old boy
- Source :
- Clinical Case Reports
- Publication Year :
- 2017
- Publisher :
- Wiley, 2017.
-
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 largerāscale genetic studies.
- Subjects :
- 0301 basic medicine
leukodystrophy
Microcephaly
Pediatrics
medicine.medical_specialty
Case Report
Case Reports
03 medical and health sciences
Epilepsy
0302 clinical medicine
medicine
methemoglobinemia type II
microcephaly
Cyanosis
CYB5R3
business.industry
Leukodystrophy
methemoglobin reductase
General Medicine
medicine.disease
developmental delay
030104 developmental biology
Epilepsy syndromes
Congenital Methemoglobinemia
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 20500904
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Clinical Case Reports
- Accession number :
- edsair.doi.dedup.....c9145b813484ced217fa91b248f9df29