Congenital Methemoglobinemia
Authors
Abstract:
Congenital methemoglobinemia is a rare cause of cyanosis. We report a case of a girl, 17 years old with peripheral cyanosis and normal cardio-pulmonary system. She was diagnosed as a case of methemoglobinemia based on findings of polycythemia and HbM band on hemoglobin electrophoresis. We emphasize the importance of this rare entity in the differential diagnosis of cyanosis.
similar resources
congenital methemoglobinemia
congenital methemoglobinemia is a rare cause of cyanosis. we report a case of a girl, 17 years old with peripheral cyanosis and normal cardio-pulmonary system. she was diagnosed as a case of methemoglobinemia based on findings of polycythemia and hbm band on hemoglobin electrophoresis. we emphasize the importance of this rare entity in the differential diagnosis of cyanosis.
full textCongenital methemoglobinemia methemoglobin reductase deficiency.
Shortly after the first white settlers crossed through the Cumberland Gap into the western foothills of the Appalachians there arose in one kinship several particu larly swarthy offspring characterized by deep bluish skin coloration. These folks — the Blue Fugates — apparently suffered no ill effects of this condition and indeed numerous off-spring were bom some of which also had this peculiar...
full textRecessive congenital methemoglobinemia in immediate generations.
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extrem...
full textCase Report Congenital Methemoglobinemia in Pregnancy
Methemoglobinemia is a well-known but frequently forgotten cause of hypoxia and respiratory distress in patients of all ages. A rare form of methemoglobinemia is divided into congenital or hereditary. There are very few clinical papers and case reports published on literature with regards to this. We report a case of congenital methemoglobinemia in a pregnant woman who presented to us with cyan...
full textCongenital Methemoglobinemia. a Clinical and Biochemical Study of a Case.
Congenital methemoglobinemia is an unusual condition in which a large amount of intracellular hemoglobin exists as methemoglobin-pigment in which the hemoglobin iron is in the ferric state and incapable of carrying oxygen. The congenital type of methemoglobinemia is present from birth and is characterized by the constancy of the level of methemoglobin, by the relatively mild associated symptoms...
full textCongenital methemoglobinemia type II in a 5‐year‐old boy
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.
full textMy Resources
Journal title
volume 7 issue 2
pages 135- 138
publication date 2012-04-01
By following a journal you will be notified via email when a new issue of this journal is published.
Keywords
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023