Bardet-Biedl syndrome: The longer we miss, the worse is the outcome

Caspian J Intern Med. 2022 Fall;13(4):805-809. doi: 10.22088/cjim.13.4.805.

Abstract

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; Ciliopathies; Consanguinity; Polydactyly.

Publication types

  • Case Reports