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KMID : 0352120220370010045
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Journal of Kyung Hee University
2022 Volume.37 No. 1 p.45 ~ p.49
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The Newborn of Transient Neonatal Cyanosis with HBG2 Gene Mutation
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Lee Seok-Jae
Yoon Hoi-Soo
Koo Hoe-Kyoung
Choi Yong-Seong
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Abstract
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Neonatal cyanosis is a common condition in neonatal intensive care units which is associated with various diseases. The cause is multiple, and it usually presents ominous manifestations, especially when it occurs concerning neonatal sepsis, cyanotic congenital heart disease, and airway abnormalities. However, transient cyanosis due to abnormal forms of hemoglobin is also reported, and early detection is essential to avoid unnecessary investigations and delays in management. We describe a case of transient neonatal cyanosis due to the c.190C > T mutation in the HBG2 gene who was initially misdiagnosed as having other causes. After a proper diagnosis of congenital methemoglobinemia, he was successfully treated with conservative management. Transient neonatal cyanosis caused by methemoglobinemia without cardiorespiratory dysfunction has no specific therapy and it resolves naturally.
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KEYWORD
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Transient neonatal cyanosis, HBG2, Gene mutation, Methemoglobinemia
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