Congenital Inclusion Body Hemolytic Anemia Associated with Epilepsy and Disordered Pyridoxine Metabolism

An 18-year-old girl with severe congenital hemolytic anemia due to an intracorpuscular erythrocytic defect is presented. In addition to persistent and severe jaundice, the child's erythrocytes always demonstrated severe hypochromia, poikilocytosis, anisocytosis, and a remarkable proportion were nucleated. Large numbers of iron-positive inclusion bodies were a constant feature of her erythrocytes, as well. The tryptophan loading test was abnormal, suggesting disordered pyridoxine metabolism. The free erythrocyte coproporphyrin values were elevated, indicating a defect in heme synthesis. The patient had a life-long history of a convulsive disorder. It is suggested that the entire symptom complex was the expression of a defect in tryptophan metabolism related to pyridoxine. However, therapeutic challenge with pyridoxine was not performed; the patient cannot be included among the pyridoxine-responsive anemias.