1. Background:
Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple body systems. To date, twenty-one, disease-causing genes have been identified (BBS1-BBS21). Due to genetic heterogeneity, diagnosis of Bardet-Biedl syndrome is based on clinical features and family history. Laboratory investigations and imaging studies can be performed to assess the features that may help in the diagnosis.
The diagnosis of BBS is based on the presence of at least four major features or three major features and at least two minor features according to diagnostic criteria published by Beales et al [1]. Genetic analysis for confirmation of BBS is not available in most places, particularly in developing countries where many hospitals are resources-limited. The management of BBS is supportive through the multidisciplinary team approach. Genetic counselling of the family is important. The rarity of the syndrome and slow progression of it acts as a big challenge to early diagnose BBS. Late detection can result in an increased rate of morbidity and mortality. Chronic kidney disease (CKD) is a major contributor to morbidity and mortality among patients with BBS. Hepatobiliary involvement in BBS is diverse; however, hepatic haemangioma and gall bladder stone were rarely described in the literature.
In this report, we have represented a rare case of Bardet Biedl syndrome with hyponatremia as a first presentation of chronic kidney disease stage. Subclinical hypothyroidism, a gall bladder stone and hepatic haemangioma were found out during the workup. To the best of our knowledge, this is the first reported case of BBS in Sudan.