Abstract 162: Frustrating four: Fat, fingers, fundus, failing femaleness: A rare case of Bardet-Biedel syndrome

Background: The Bardet–Biedl syndrome (BBS) is a rare ciliopathic Autosomal Recessive disorder, with features like central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism and renal failure. Less than 15 cases have been reported from India. There is no disease-specific treatment, but management of its manifestations and prevention of its complications are most important to prevent morbidity and mortality. Case Presentation: A 9-year female presented to Endocrinology Out patient department with obesity, polydactyly, ataxia and visual complaints. On examination, she also had hypogonadism, acanthosis nigricans, retinitis pigmentosa and crowding of teeth. A diagnosis of BBS was made based on Beales et al criteria (attached in the table form) and associated features of the condition were screened for which also revealed hypertriglyceridemia. She was advised dietary modifications and genetic counselling was offered to the family. She was also advised regular follow up for screening of complications. Conclusions: BBS is a rare clinical condition often unnoticed by clinicians. Renal failure is the leading cause of morbidity and mortality in these patients and regular follow up for early detection is vital to halt its progression. The combined presence of postaxial polydactyly, blindness, learning disabilities, renal malformations, and obesity in a patient should alert to the possibility of BBS