Abstract
BackgroundCongenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly.Case presentationHere, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria.ConclusionHere, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia.
Highlights
Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis
Here, we diagnose a case of congenital erythropoietic porphyria which was initially missed, the clinical features were clear
We identified two causes of hemo‐ lytic anemia in this patient
Summary
Alpha thalassemia is a common cause of neonatal hemolytic anemia, and CEP is a rare genetic disease. Both manifest with severe hemolytic anemia, hepatosplenomegaly, and require frequent blood transfusions. The early diagnosis of alpha thalassemia in our patient could have been a factor in the delayed diagnosis of CEP, but persistent red urine, post-sunlight hypopigmented atrophic skin and erythrodontia should have been clues leading to an earlier diagnosis of CEP. All authors read and approved the final manuscript. Author details 1 Department of Pediatrics, School of Medicine and Health Sciences, Sana’a University, PO Box 700, Sana’a, Yemen. 2 Department of Medicine, School of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen
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