Bardet-Biedl Syndrome in an Ethiopian: A Case Report

Authors

  • Asamere Tsegaw UoG
  • Tiliksew Teshome Addis Ababa University

DOI:

https://doi.org/10.20372/ejhbs.v6i1.240

Keywords:

Bardet-Biedl syndrome, Retinal dystrophy, polydactyly, renal failure

Abstract

Bardet-Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressiveretinaldystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardation, and hypogonadism. Renal failure is known to be the main cause of death in patients with BBS. Retinal dystrophy and other eye diseases seen in patients with BBS can cause severe visual impairment and blindness at an early age. We report the clinical and laboratory data of the first published case from Ethiopia of an 18 year old boy with multi-system manifestations of the Bardet-Biedl Syndrome. We discuss the main clinical manifestations of the syndrome including its potentially blinding and fatal features. We emphasize the need for diagnosis of this syndrome at as an early age as possible so that proper and multidisciplinary medical care can be given for such patients to prevent unnecessary morbidity and early mortality.

 

Author Biographies

Asamere Tsegaw, UoG

Department of Ophthalmology, College of Medicine and Health Sciences, The University of Gonder

 

Tiliksew Teshome, Addis Ababa University

Vitreo-Retina unit, Department of Ophthalmology, Faculty of Medicine, Addis Ababa University

 

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Published

2014-09-10

How to Cite

1.
Tsegaw A, Teshome T. Bardet-Biedl Syndrome in an Ethiopian: A Case Report. Ethiop J Health Biomed Sci [Internet]. 2014 Sep. 10 [cited 2024 Jul. 20];6(1):65-8. Available from: https://journal.uog.edu.et/index.php/EJHBS/article/view/240

Issue

Section

Case Report