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Caspian J Intern Med 2022, 13(4): 805-809 Back to browse issues page
Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
Michael Edwar * , Usama Ragab , Ahmed Atia Kamel
Department of Internal Medicine, Faculty of Medicine, Zagazig University, Zagazig, Egypt , michaelfarag@medicine.zu.edu.eg
Abstract:   (472 Views)
Background: Bardet-Biedl syndrome (BBS) is characterized by obesity, cognitive abnormalities, rod-cone dystrophy, skeletal abnormalities, and many other secondary features.
Case Presentation: We describe a 28-year-old man presented with postaxial polydactyly, retinitis pigmentosa, obesity, hypogonadism and learning difficulties. Renal insufficiency in form of acute kidney injury was the presenting feature and this explain the worse outcome. The diagnosis was delayed despite being classic. This delay in diagnosis leads to a lot of complications that worsen the patient's condition.
Conclusion: The characteristics of BBS should be noted by doctors because an early diagnosis will result in a better outcome. The case was prone to numerous consequences due to the delay in diagnosis, which could have been avoided if an early diagnosis had been established.

 
Keywords: Bardet-Biedl Syndrome, Polydactyly, Retinitis Pigmentosa
Full-Text [PDF 291 kb]   (213 Downloads)    
Type of Study: case report | Subject: Endocrinology
Received: 2020/10/5 | Accepted: 2021/01/18 | Published: 2022/09/24
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Edwar M, Ragab U, Atia Kamel A. Bardet-Biedl syndrome: The longer we miss, the worse is the outcome. Caspian J Intern Med 2022; 13 (4) :805-809
URL: http://caspjim.com/article-1-2539-en.html


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Volume 13, Issue 4 (Autumn 2022) Back to browse issues page
Caspian Journal of Internal Medicine
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