Late Diagnosis of Congenital Methemoglobinemia in an Elderly Patient During Cardiac Surgery

Champigneulle, Benoît; Lecorre, Marine; Bouzguenda, Hassine; Lemaire, Sacha; Ethuin, Fréderic; Deleuze, Philippe; Rouquette, Isabelle; Bouhemad, Bélaïd

doi:10.1053/j.jvca.2012.12.010

Cited by 4 publications

(2 citation statements)

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“…However, methemoglobinemia should definitely be considered when there is a discrepancy between SpO 2 and PaO 2 values [ 5 , 6 ]. To the best of our knowledge, only four cases of congenital methemoglobinemia diagnosed after the age of 50 years have been reported to date [ 5 , 6 , 7 , 8 , 9 ]. As such, our patient is the oldest person (79 years old) in whom the diagnosis of congenital methemoglobinemia has been made.…”

Section: Discussionmentioning

confidence: 99%

“…Herein, we present a case of congenital methemoglobinemia first diagnosed at the age of 79 years. Cyanosis is the most common symptom indicative of congenital methemoglobinemia [ 5 , 6 , 7 , 8 , 9 ]. When evaluating central cyanosis, it is important to check for any dissociation between SpO 2 and PaO 2 values; if the difference exceeds 5%, methemoglobinemia should be considered as a possible diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report

Nakata¹,

Yokota²,

Tabata

et al. 2023

Medicina

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Background: Cardiopulmonary disorders are the most common cause of central cyanosis, and methemoglobinemia is often overlooked in the differential diagnosis of patients with central cyanosis. In most cases, methemoglobinemia is acquired and hereditary congenital methemoglobinemia is rare. Only a few case reports of congenital methemoglobinemia can be found in PubMed. To date, only four cases of congenital methemoglobinemia diagnosed after the age of 50 years have been reported. Case Presentation: A 79-year-old Japanese woman presented at our hospital with the chief complaints of dyspnea and cyanosis. She exhibited cyanosis of the lips and extremities, and her SpO2 was 80%, with oxygen administration at 5 L/min. Blood gas analysis revealed a PaO2 of 325.4 mmHg and methemoglobin level of 36.9%. The SpO2 and PaO2 values were dissociated, and methemoglobin levels were markedly elevated. Genetic analysis revealed a nonsynonymous variant in the gene encoding nicotinamide adenine dinucleotide cytochrome (NADH) B5 reductase 3 (CYB5R3), and the patient was diagnosed with congenital methemoglobinemia. Conclusions: It is important to consider methemoglobinemia in the differential diagnosis of patients with central cyanosis. At 79 years of age, our patient represents the oldest patient with this diagnosis. This report indicates that it is crucial to consider the possibility of methemoglobinemia regardless of the patient’s age.

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