Publication:

Sigmoid volvulus in Bardet-Biedl syndrome: serendipity or a new association?

Bardet-Biedl syndrome is a rare ciliopathy with a wide array of clinical features, including congenital blindness, obesity, neuroendocrine disturbance, hypogonadism and renal dysfunction. The association of Hirschsprung’s disease with Bardet-Biedl syndrome has been published earlier, however, there is no literature regarding patients with Bardet-Biedl syndrome presenting later in life due to complications associated with Hirschsprung’s disease. Bardet-Biedl Syndrome is exceedingly rare, with only around 15 case reports published from India. Here we present the case of a 55-year-old male patient with Bardet-Biedl syndrome who presented with intestinal obstruction, raising the question as to whether his emergency presentation was a complication of his flawed genotype or serendipity.