Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype

Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndrome in 1959, there have never been reported cases of Alstrom syndrome with the occurrence of the Bardet-Biedl syndrome in their relatives, this case suggesting a close genetic link between these two ciliopathies. The presence of empty sella seems to be a rare morphologic finding in Alstrom syndrome although it has been documented in few Bardet-Biedl cases. Case presentation: We report a case of a 20 -year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia. By studying his family medical records we identified two relatives with suggestive clinical findings for Bardet –Biedl syndrome. Conclusion: Analyzing the clinical traits of these patients we found that retinopathy, nephropathy and central obesity were present in all patients, suggesting a main anomaly in ciliary function controlling photoreception, renal and metabolic processes. The occurrence of similar clinical cases within a family further demonstrates the existence of a common pathologic cilliary mechanism, a genetic basis of phenotypic variability in seemingly monogenic disease and a functional link between rare disorders and common traits with overlapping clinical manifestations. Genetic studies in such patients may provide new data regarding the consequences of defective cilia and a possible identification of new gene mutations.