Congenital Methemoglobinemia (original) (raw)
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Congenital Methemoglobinemia: Rare Presentation of Cyanosis in Newborns
Clinics and practice, 2019
Methemoglobin (MetHb) is an oxidized form on hemoglobin, which is unable to bind oxygen and consequently carry it to the tissues. Normally present in small quantities (<1%) without detrimental effects, its elevation produces hypoxemia which can be profound and even lethal. Methemoglobinemia is an abnormal increase of MetHb (>3%) of total hemoglobin. It can be classified in two types: hereditary and acquired. Acquired form is caused
Cureus
Cyanosis and dyspnea are common complaints in adults and have broad differential diagnoses, of which rare ones such as congenital methemoglobinemia should always be considered in the differential diagnosis. Methemoglobinemia might be acquired or congenital. Patients' symptoms vary from severe shortness of breath, mental status changes, and cyanosis to none. The diagnosis of congenital methemoglobinemia is challenging and requires high index of suspension, especially in older patients. In addition, when diagnosed the treatment of congenital methemoglobinemia is oral ascorbic acid which is readily available. We present a rare case of a 33-year-old lady, who had a long history of recurrent episodes of cyanosis, headache, and fatigue. After excluding cardiopulmonary causes, methemoglobin levels were measured and found to be high, and the chart review revealed high levels of methemoglobin in all her previous episodes, without exposure to any offending agent. This raised the concern of a late diagnosis of congenital methemoglobinemia. The patient was treated with a high dose of ascorbic acid resulting in resolution of the symptoms. Congenital methemoglobinemia is a rare diagnosis that needs a high index of suspicion, especially in adults. A thorough history, physical examination, and multiple laboratory tests are needed to confirm the diagnosis and rule out other causes.
Methemoglobinemia as an uncommon cause of cyanosis
The Netherlands journal of medicine, 1999
Cyanosis is usually caused by decreased arterial oxygen saturation due to pulmonary or cardiac diseases. Methemoglobinemia is a rare cause, sometimes with lethal outcome. Two patients are described, both with an unremarkable cardiopulmonary history, presented with severe cyanosis due to aniline-induced methemoglobinemia that developed at work. The symptoms and the treatment of methemoglobinemia are discussed.
Neonatal Congenital Methemoglobinemia– a Case Report
2017
A term, male neonate, product of a non-consanguineous marriage, was born to a 2 nd gravida mother operatively. There were no known adverse antenatal influences. The baby was vigorous at birth but was visibly cyanosed and oxygen saturation was 70% in room air. There was no respiratory distress. The baby was provided with oxygen (FiO2-100%) which brought up SpO2 to 80-85%. On examination in NICU, the baby was term gestation with anthropometric parameters within 50 th -90 th centile for age. The neonate had central and peripheral cyanosis with oxygen saturation of 70% in room air, which improved to 8085% on high-flow oxygen with FiO2 100%. He was normotensive. Systemic examination was normal. Complete blood picture and routine biochemistry were unremarkable. Chest radiograph showed well expanded lungs and normal cardiac shadow. 2D-Echocardiography revealed a structurally normal heart with no evidence of pulmonary hypertension. In view of persistent cyanosis in the absence of significan...
HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis
BMJ case reports, 2015
Early neonatal central cyanosis that is unrelated to cardiopulmonary causes, alerts clinicians to possibility of methaemoglobinaemia. Congenital methaemoglobinaemia due to haemoglobin M is an autosomal dominant disorder characterised by lifelong cyanosis. We report a case presentation and review of diagnostic pitfalls of a newborn who presented with central cyanosis; investigations revealed a low methaemoglobin reductase (2.2 IU/g Hb), with normal maternal levels (9.1 IU/g Hb). Therefore, haemoglobinopathy investigations were completed on the mother and her baby, which showed an α-globin variant in both. The maternal α2 globin gene sequencing showed heterozygosity for haemoglobin M Boston (α58 His→Tyr).
Congenital Methemoglobinemia-Induced Cyanosis in Assault Victim
Congenital Methemoglobinemia-Induced Cyanosis in Assault Victim, 2021
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.
Methemoglobinemia – Two Uncommon Presentations
International Medical Journal Malaysia, 2018
Two rather different cases of methemoglobinemia are presented. The first case is an infant who had a circumcision procedure with prilocaine. The second case involves a 14-year-old girl who attempted suicide with an overdose of metoclopramide and butamirate citrate. The attention is drawn to differences in hospital admission and management especially with respect to methemoglobin level and age. If methemoglobin levels reach ≥ 10%, cyanosis would appear first. Symptoms of hypoxemia and diminished oxygen transport do not develop until levels reach 30 to 40%. Not only early intervention is crucial but also patients should not be discharged from the hospital too soon. Doctors should be able to identify high risk patients, paying a special attention to infants younger than three months old who might be at an increased risk of methemoglobinemia which is a potentially lethal complication of prilocaine. As for our second case, methemoglobin level has not increased, despite an overdose of metoclopramide. This may be due to age or timely elimination of toxic agents by gastric lavage, catharsis and administration of procyclidine.
Healthy blue man: congenital methemoglobinemia
International Journal of Research in Medical Sciences, 2017
Congenital methemoglobinemia, though often discussed in medical teachings is rarely encountered in clinical practice as the condition is asymptomatic. Here we present such a case and discuss in detail the clinical presentation of both congenital and acquired methemoglobinemia. We also outlined the management of the conditions. One should suspect methemoglobinemia when cyanosis is not being corrected by supplementing oxygen and and when the oxygen saturation is low by pulse oximetry and normal by arterial blood gas analysis. Treatment modalities for congenital methemoglobinemia is of cosmetic purpose, but timely intervention in acquired methemoglobinemia could be lifesaving. Methylene blue, Ascorbic acid and Riboflavin are drugs of choice.