Congenital methemoglobinemia identified by pulse oximetry screening

Research output: Contribution to journalArticlepeer-review

Standard

Congenital methemoglobinemia identified by pulse oximetry screening. / Ward, Jennifer; Motwani, Jayashree; Baker, Nikki; Nash, Matthew; Ewer, Andrew K.; Toldi, Gergely.

In: Pediatrics, Vol. 143, No. 3, e20182814, 03.2019.

Research output: Contribution to journalArticlepeer-review

Harvard

Ward, J, Motwani, J, Baker, N, Nash, M, Ewer, AK & Toldi, G 2019, 'Congenital methemoglobinemia identified by pulse oximetry screening', Pediatrics, vol. 143, no. 3, e20182814. https://doi.org/10.1542/peds.2018-2814

APA

Ward, J., Motwani, J., Baker, N., Nash, M., Ewer, A. K., & Toldi, G. (2019). Congenital methemoglobinemia identified by pulse oximetry screening. Pediatrics, 143(3), [e20182814]. https://doi.org/10.1542/peds.2018-2814

Vancouver

Author

Ward, Jennifer ; Motwani, Jayashree ; Baker, Nikki ; Nash, Matthew ; Ewer, Andrew K. ; Toldi, Gergely. / Congenital methemoglobinemia identified by pulse oximetry screening. In: Pediatrics. 2019 ; Vol. 143, No. 3.

Bibtex

@article{a21fa095eba748f38a5ffd51f95835ba,
title = "Congenital methemoglobinemia identified by pulse oximetry screening",
abstract = "Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 deficiency, or hemoglobin M disease. Newborn pulse oximetry screening was developed for the early detection of critical congenital heart disease; however, it also enables the early identification of other hypoxemic conditions. We present the case of a term neonate who was admitted to the neonatal unit after a failed pulse oximetry screening at 3 hours of age. Oxygen saturations remained between 89% and 92% despite an increase in oxygen therapy. Chest radiograph and echocardiogram results were normal. A capillary blood gas test had normal results except for a raised methemoglobin level of 16%. Improvement was seen on the administration of methylene blue, which also resulted in an increase in oxygen saturations to within normal limits. Further investigation revealed evidence of type I hereditary cytochrome b5 reductase deficiency as a result of a CYB5R3 gene mutation with 2 pathogenic variants involving guanine-to-adenine substitutions. Although mild cyanosis is generally the only symptom of type I disease, patients may later develop associated symptoms, such as fatigue and shortness of breath. If an early diagnosis is missed, these patients are likely to present later with a diagnostic conundrum and be subject to extensive investigation. This case represents the success of pulse oximetry screening in the early identification of subclinical hypoxemia in this infant. After the exclusion of other pathologies, a routine investigation of capillary blood gas provided the information that led to a diagnosis, which allowed for early and effective management.",
author = "Jennifer Ward and Jayashree Motwani and Nikki Baker and Matthew Nash and Ewer, {Andrew K.} and Gergely Toldi",
note = "Publisher Copyright: {\textcopyright} 2019 by the American Academy of Pediatrics. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",
year = "2019",
month = mar,
doi = "10.1542/peds.2018-2814",
language = "English",
volume = "143",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "3",

}

RIS

TY - JOUR

T1 - Congenital methemoglobinemia identified by pulse oximetry screening

AU - Ward, Jennifer

AU - Motwani, Jayashree

AU - Baker, Nikki

AU - Nash, Matthew

AU - Ewer, Andrew K.

AU - Toldi, Gergely

N1 - Publisher Copyright: © 2019 by the American Academy of Pediatrics. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.

PY - 2019/3

Y1 - 2019/3

N2 - Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 deficiency, or hemoglobin M disease. Newborn pulse oximetry screening was developed for the early detection of critical congenital heart disease; however, it also enables the early identification of other hypoxemic conditions. We present the case of a term neonate who was admitted to the neonatal unit after a failed pulse oximetry screening at 3 hours of age. Oxygen saturations remained between 89% and 92% despite an increase in oxygen therapy. Chest radiograph and echocardiogram results were normal. A capillary blood gas test had normal results except for a raised methemoglobin level of 16%. Improvement was seen on the administration of methylene blue, which also resulted in an increase in oxygen saturations to within normal limits. Further investigation revealed evidence of type I hereditary cytochrome b5 reductase deficiency as a result of a CYB5R3 gene mutation with 2 pathogenic variants involving guanine-to-adenine substitutions. Although mild cyanosis is generally the only symptom of type I disease, patients may later develop associated symptoms, such as fatigue and shortness of breath. If an early diagnosis is missed, these patients are likely to present later with a diagnostic conundrum and be subject to extensive investigation. This case represents the success of pulse oximetry screening in the early identification of subclinical hypoxemia in this infant. After the exclusion of other pathologies, a routine investigation of capillary blood gas provided the information that led to a diagnosis, which allowed for early and effective management.

AB - Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 deficiency, or hemoglobin M disease. Newborn pulse oximetry screening was developed for the early detection of critical congenital heart disease; however, it also enables the early identification of other hypoxemic conditions. We present the case of a term neonate who was admitted to the neonatal unit after a failed pulse oximetry screening at 3 hours of age. Oxygen saturations remained between 89% and 92% despite an increase in oxygen therapy. Chest radiograph and echocardiogram results were normal. A capillary blood gas test had normal results except for a raised methemoglobin level of 16%. Improvement was seen on the administration of methylene blue, which also resulted in an increase in oxygen saturations to within normal limits. Further investigation revealed evidence of type I hereditary cytochrome b5 reductase deficiency as a result of a CYB5R3 gene mutation with 2 pathogenic variants involving guanine-to-adenine substitutions. Although mild cyanosis is generally the only symptom of type I disease, patients may later develop associated symptoms, such as fatigue and shortness of breath. If an early diagnosis is missed, these patients are likely to present later with a diagnostic conundrum and be subject to extensive investigation. This case represents the success of pulse oximetry screening in the early identification of subclinical hypoxemia in this infant. After the exclusion of other pathologies, a routine investigation of capillary blood gas provided the information that led to a diagnosis, which allowed for early and effective management.

UR - http://www.scopus.com/inward/record.url?scp=85062857749&partnerID=8YFLogxK

U2 - 10.1542/peds.2018-2814

DO - 10.1542/peds.2018-2814

M3 - Article

C2 - 30733239

AN - SCOPUS:85062857749

VL - 143

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 3

M1 - e20182814

ER -