Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report

• Published in: Clinical medicine insights. Case reports 2023, Vol.16, p.11795476231193896-11795476231193896
• Main Authors: Hassan, Subtain, Khan, Qaisar Ali, Saravanan, Priyadharshini, Iram, Sumaira, Rohail, Samia, Belay, Naod F, Afzal, Muhammad, Hadi, Faiza Amatul, Pande, Harshawardhan
• Format: Report
• Language: English
• ISSN: 1179-5476; 1179-5476
• DOI: 10.1177/11795476231193896

BackgroundBardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS. Case presentationA 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication. ConclusionMegaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome.