Publications by authors named "Bilguis M Al-Eryani"
BMC Res Notes
September 2017
Article Synopsis
- Congenital erythropoietic porphyria (CEP) is a rare genetic disorder caused by a defect in heme-porphyrin synthesis, leading to skin, bone, and cartilage damage, as well as symptoms like reddish urine and hemolytic anemia.
- A 5-year-old boy from a Middle Eastern background was initially misdiagnosed with alpha thalassemia but later presented with skin lesions, red urine, and hepatosplenomegaly, prompting further testing.
- The case highlights the delay in diagnosing CEP, which was not recognized until age 5, despite its clear symptoms being present since birth, illustrating the importance of accurate genetic evaluation in cases of hemolytic anemia.
