Homozygous Methemoglobinemia Course in a 2-Year-Old Girl
https://doi.org/10.15690/pf.v20i1.2526
Abstract
Background. Methemoglobinemia is a group of diseases caused by various factors where methemoglobin (MetHb) content in the blood increases above the physiological norm.
Clinical case description. Clinical case of methemoglobinemia that was an incidental finding in two-year-old girl who was in the clinic due to the head injury is presented. Our examinations have revealed zero activity of cytochrome-b5-reductase enzyme. This fact indicates homozygous mutation. The cyanosis and hypoxia were relieved by ascorbic acid courses (250 mg/day).
Conclusion. Increased alertness regarding long-term isolated cyanosis should be presented when excluding its most common causes. Timely management could prevent severe complications development.
About the Authors
Marina S. Malyugina
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
1, b. 7, Ostrovityanova Str., Moscow, 117997
Disclosure of interest:
Not declared.
Daria A. Lavrova
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
Ekaterina A. Matveeva
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
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Review
For citations:
Malyugina M.S., Lavrova D.A., Matveeva E.A. Homozygous Methemoglobinemia Course in a 2-Year-Old Girl. Pediatric pharmacology. 2023;20(1):56-58. (In Russ.) https://doi.org/10.15690/pf.v20i1.2526
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