Abstract | BACKGROUND: CASE PRESENTATION: We report a case of a male newborn with cyanosis apparent since birth. Surprisingly, his respiratory and hemodynamic status including normal arterial blood oxygen saturation was stable, but oxygen saturation on pulse oximetry did not increase after 100% supplemental oxygen was started. In addition to routine pulmonary and cardiologic evaluation, further evaluation for dyshemoglobin was conducted; α2-globin gene sequencing showed a single-point variant causing Hb M Boston. Methemoglobin (MetHb) level estimated by co-oximetry was normal. After a 14-day stay in the NICU, the patient remained respiratory and hemodynamically stable without supplemental oxygen except for cyanosis. CONCLUSIONS: Hb M disease is a benign disease and does not require any treatment whereas acquired methemoglobinemia is a potentially fatal condition. Neonatologists should be aware that low oxygenation status on pulse oximetry in the face of normal arterial blood saturation values might indicate the possibility of Hb M disease in early neonatal cyanosis, irrespective of MetHb value.
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Authors | Chungwoo Shin, Mee Hong, Myungshin Kim, Jung Hyun Lee |
Journal | BMC pediatrics
(BMC Pediatr)
Vol. 19
Issue 1
Pg. 221
(07 03 2019)
ISSN: 1471-2431 [Electronic] England |
PMID | 31269924
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- alpha-Globins
- Methemoglobin
- Hemoglobin M
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Topics |
- Cyanosis
(diagnosis, genetics)
- Diagnosis, Differential
- Exons
(genetics)
- Hemoglobin M
(genetics)
- Humans
- Infant, Newborn
- Male
- Methemoglobin
(analysis)
- Methemoglobinemia
(congenital, diagnosis, genetics)
- Point Mutation
- alpha-Globins
(genetics)
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