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CASE REPORT article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1420684

Bardet-Biedl Syndrome in a 19-Year-Old Male: The First Case Report from Palestine Provisionally Accepted

Hamza B. Karmi1 Yahya Abu Jwaid1 Mohammad H. Shehadeh1* Dareen Njoom1 Aya Awwad1 Hasan Eideh2
  • 1Medical Research Club, Faculty of Medicine, Al-Quds University, Jerusalem, Palestine, Palestine
  • 2Other, Palestine

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Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by retinitis pigmentosa, polydactyly, type 2 diabetes mellitus, and obesity. This case report presents a 19-year-old male from Palestine with BBS, exhibiting delayed diagnosis and variable phenotypic expression. The patient had familial BBS history and presented with obesity, type 2 diabetes mellitus, retinitis pigmentosa, and cryptorchidism. Genetic analysis identified heterozygous missense variants in the FBN3 gene, yet additional genetic factors may contribute to the phenotype. Renal abnormalities included kidney shrinkage and mild hydronephrosis. Management of this patient involves a multidisciplinary approach with lifestyle modifications, surgical interventions, and supportive care. Early diagnosis, genetic counseling, and regular follow-up are crucial for improving outcomes in BBS. This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.

Keywords: Ramallah, Palestine, P609 Bardet Biedl Syndrome, type 2 diabetes, Retinitis Pigmentosa, FBN3 gene

Received: 20 Apr 2024; Accepted: 16 May 2024.

Copyright: © 2024 Karmi, Abu Jwaid, Shehadeh, Njoom, Awwad and Eideh. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: MD. Mohammad H. Shehadeh, Medical Research Club, Faculty of Medicine, Al-Quds University, Jerusalem, Palestine, Jerusalem, Palestine