Bardet-Biedl Syndrome: Clinical, Endocrinological and Imaging Evaluation of Three Unrelated Bedouin Children

Abstract

Objective and Importance: Bardet-Biedl syndrome (BBS) is a heterogeneous disorder; clinical dissimilarities do exist among patients. Cases of BBS have been reported with hypertension, diabetes mellitus and renal disease, while others were reported with hepatic disease. Here, we are reporting 3 newly diagnosed unrelated Bedouin children, evaluated for the presence of an endocrine disorder. Clinical Presentation: Our patients were 2 males and 1 female. These patients are obese with a voracious appetite, postaxial polydactyly and mentally retarded. Pigmentary retinopathy was found in the older children and hypogenitalism is apparent in the older male child who is also hypertensive. The clinical, endocrinological and imaging evaluation data are compared with previously published cases. Also, phenotypic variability and genetic heterogeneity of BBS pleiotropic gene are briefly discussed. Conclusion: The results of hormonal studies in our cases showed no endocrinological dysfunction, except for the presence of hypogonadism. Although no specific treatment is available, an early evaluation of BBS cases can be the first step in initiating symptomatic management and preventive measures for the patient and the family.