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.