Healthy blue man: congenital methemoglobinemia (original) (raw)

Congenital Methemoglobinemia in a 33-Year-Old Patient: A Case Report on a Rare Presentation and a Review of the Literature

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.

Congenital Methemoglobinemia

2011

Congenital methemoglobinemia is a rare cause of cyanosis. We report a case of a girl, 17 years old with peripheral cyanosis and normal cardio-pulmonary system. She was diagnosed as a case of methemoglobinemia based on findings of polycythemia and HbM band on hemoglobin electrophoresis. We emphasize the importance of this rare entity in the differential diagnosis of cyanosis.

Methemoglobinemia: Etiology, Pharmacology, and Clinical Management

Annals of Emergency Medicine, 1999

Methemoglobin (MHb) may arise from a variety of etiologies including genetic, dietary, idiopathic, and toxicologic sources. Symptoms vary from mild headache to coma/death and may not correlate with measured MHb concentrations. Toxin-induced MHb may be complicated by the drug's effect on other organ systems such as the liver or lungs. The existence of underlying heart, lung, or blood disease may exacerbate the toxicity of MHb. The diagnosis may be complicated by the effect of MHb on arterial blood gas and pulse oximeter oxygen saturation results. In addition, other dyshemoglobins may be confused with MHb. Treatment with methylene blue can be complicated by the presence of underlying enzyme deficiencies, including glucose-6-phosphate dehydrogenase deficiency. Experimental antidotes for MHb may provide alternative treatments in the future, but require further study.

Methylene blue unresponsive methemoglobinemia

Indian Journal of Critical Care Medicine, 2014

Acquired methemoglobinemia is an uncommon blood disorder induced by exposure to certain oxidizing agents and drugs. Although parents may not give any history of toxin ingestion; with the aid of pulse-oximetry and blood gas analysis, we can diagnose methemoglobinemia. Prompt recognition of this condition is required in emergency situations to institute early methylene blue therapy. We report an unusual case of severe toxic methemoglobinemia, which did not respond to methylene blue, but was successfully managed with exchange transfusion.

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.

Acquired Methemoglobinemia- An Overview

2019

Methemoglobinemia is a life-threatening condition that can be congenital or acquired. It is characterized by the inability of haemoglobin to carry oxygen because the ferrous part of the heme molecule has been oxidized to ferric state. Acquired methemoglobinemia is due to medication or chemicals that cause the rate of methemoglobin formation to exceed its rate of reduction. We performed a search of American National library of Medicine (PubMed) with the following key word “Acquired Methemoglobinemia”. Two hundred forty-two episodes (40.1% published in year 2000 or after) were found. A retrospective case series was found. In which it describes the cases of acquired methemoglobinemia detected and the clinical circumstances under which they occurred at two tertiary care hospitals and affiliated outpatient clinics over 28 months. One hundred thirty-eight cases of acquired methemoglobinemia were detected over 28 months. There were no gender predisposition and performed over a wide range o...

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.