Caspian Journal of Internal Medicine
Babol University of Medical Sciences
Thu, Mar 20, 2025
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Volume 13, Issue 4 (Autumn 2022)
Caspian J Intern Med 2022, 13(4): 805-809 |
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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
URL: http://caspjim.com/article-1-2539-en.html
Department of Internal Medicine, Faculty of Medicine, Zagazig University, Zagazig, Egypt , michaelfarag@medicine.zu.edu.eg
Abstract: (2292 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.
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.
Type of Study: case report |
Subject:
Endocrinology
Received: 2020/10/5 | Accepted: 2021/01/18 | Published: 2022/09/24
Received: 2020/10/5 | Accepted: 2021/01/18 | Published: 2022/09/24
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