Healthy blue man: congenital methemoglobinemia

Abstract

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.

Congenital Methemoglobinemia with Multiple Limb Anomalies in an 11-Year-Old Boy

“…A minor variant of congenital metHb exists where there is hemoglobin M (HbM), with substitution of amino acid in either the alpha or beta part of the hemoglobin. These individuals may also develop methemoglobinemia due to decreased ability of the enzyme to reduce iron back to its Fe 2+ state [10,11].…”