HOMOGOTO MUTATION IN GENE BBS4, AS A CAUSE OF BARDET-BIEDL SYNDROME

Abstract

Bardet-Biedl syndrome (OMIM 209900) is a rare syndrome with an autosomal recessive inheritance pattern that is characterized by multisystem involvement and is considered a ciliopathy. It is clinically heterogeneous with multiple manifestations due to multisystem involvement. The objective of this article was to describe the clinical case of a 16-year-old patient with a diagnosis of Bardet Biedl Syndrome, which is initially suspected due to physical examination findings due to obesity, renal compromise, corrected polydactyly and cryptorchidism, in addition to neurodevelopmental delay. The patient has a family history of a sibling with similar symptoms. The diagnostic suspicion is finally confirmed by clinical exome. This article concludes despite the fact that this syndrome is unusual, the association of obesity with neurodevelopmental delay should guide to syndromic obesity of genetic origin and should be known by the medical bod, given that early detection can allow the establishment of therapies early in order to reduce the morbidity caused by the disease due to the systemic commitment that it causes.

Key words: Cytomegalovirus, Multiple organ failure, Infant, Sepsis. Source: DeCS.