A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia.

The recessive form of congenital methemoglobinemia, caused by a defect of nicotinamide adenine dinucleotide-cytb5 reductase enzyme (cytb5r), is a rare disorder clinically presenting with cyanosis. Two different forms of recessive congenital methemoglobinemia have been described: In type I, cyanosis is the only major symptom and enzyme deficiency is restricted to erythrocytes. In type II, observed in 10-15% of all patients, enzyme deficiency occurs in the entire body and cyanosis is associated with severe, progressive neurologic impairment. This report presents a 10-year-old female with recessive congenital methemoglobinemia type II. She was admitted with quadriparetic cerebral palsy, mental retardation, convulsions, swallowing difficulty, and cyanosis. Etiology of cyanosis was not clarified exactly but was readily but erroneously attributed to uncontrolled, repetitive convulsions and aspiration of excessive oral secretions. Her methemoglobin level was measured as 51%, and a diagnosis of congenital methemoglobinemia was established. Oral ascorbic acid 500 mg/day was initiated. She responded well to therapy. Interestingly, neurologic deficits improved after ascorbic acid treatment. In conclusion, cyanosis and repetitive convulsions associated with neurologic deficits may be explained by congenital methemoglobinemia, a potentially treatable condition.