Congenital Methemoglobinemia-Induced Cyanosis in Assault Victim

Abstract

Methemoglobinemia is a blood disorder in which there is an elevated level of methemoglobin. In contrast to normal hemoglobin, methemoglobin does not bind to oxygen, which leads to functional anemia. The signs of methemoglobinemia often overlap with other cardiovascular and pulmonary diseases, with cyanosis being the key sign of methemoglobinemia. Emergency physicians may find it challenging to diagnose cyanosis as a result of methemoglobinemia. Our patient is a healthy 28-year-old male, a heavy smoker, who presented to the emergency department with multiple minimum bruises on his body, claiming he was assaulted at work. He appeared cyanotic with an O 2 saturation of 82% (normal range is 95-100%) in room air. He also mentioned that his sister complained of a similar presentation of cyanosis but was asymptomatic. All these crucial points strengthened the idea that methemoglobinemia was congenital in this patient. The case was challenging to the emergency physician, and there was significant controversy over whether the patient's hypoxia was a result of the trauma or congenital methemoglobinemia.

Homozygous Methemoglobinemia Course in a 2-Year-Old Girl

“…Существует иной взгляд на лечение гомозиготной метгемоглобинемии -с помощью метиленового синего с внутривенным введением препарата в первоначальной дозировке 1-2 мг/кг [6,7]. Кроме того, ряд авторов считают, что специфическая терапия аскорбиновой кислотой или метиленовым синим показана пациентам с выраженной клинической симптоматикой и пациентам с патологией со стороны внутренних органов [1,7,8]. Авторы данной статьи придерживаются мнения о необходимости постоянного лечения с использованием восстановителя метгемоглобина -аскорбиновой кислоты.…”

“…В данном случае диагноз метгемоглобинемии был установлен случайно при обследовании в связи с травмой. Тем не менее, врачам следует проявлять клиническую настороженность в отношении длительного изолированного цианоза при отсутствии сердечной патологии, так как при своевременно начатом лечении можно избежать серьезных осложнений [8][9][10].…”

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

“…Cardiopulmonary diseases are the most common cause of central cyanosis, and methemoglobinemia is often overlooked in the differential diagnosis [ 5 ]. 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 ].…”

“…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.…”

“…Congenital methemoglobinemia has three genetic causes [ 6 , 7 ]. The most common cause is CYB5R3 deficiency, followed by hemoglobin M disease and cytochrome B5 deficiency.…”