Bardet Biedl Syndrome: Case Report

Abstract

Background: Bardet Biedl Syndrome (SBB) is a ciliopathy with multisystem involvement, of autosomal recessive inheritance, being a little- known pathology due to its variable clinical presentation with 325 cases described worldwide; in Honduras, only one case was reported in 2010. This syndrome is characterized by central obesity, learning deficit, retinal dystrophy, hypogonadism, renal, genital and limb abnormalities.

Description of clinical case: 11-year-old female schoolgirl, with a history of decreased visual acuity and severe cognitive deficit, went to the emergency service due to signs associated with urinary tract infection. On physical examination, central obesity, peculiar phenotype with hypertelorism, epicanthus, flat nasal bridge, alteration of the left ear lobe, polydactyly in all four limbs and genuine valgus, for which SSB was suspected.

Conclusion: The case reports of Bardet Biedl syndrome are scarce, this being the second described in the country, its clinical characteristics allowed to guide its diagnosis and thus provide comprehensive management.