Bardet-Biedl Syndrome: Report of a Classical Case from North India.

This paper reports on a 14-year-old boy from North India who was diagnosed with Bardet-Biedl Syndrome (BBS). He came to the hospital with a lung infection, but doctors discovered he had the classic signs of BBS: extra fingers or toes (polydactyly), eye problems that can lead to vision loss, and obesity. The boy was successfully treated for his infection with antibiotics and fluids, and recovered normally over a week. The main purpose of this report is to remind doctors to watch for BBS signs, especially when they see children who are overweight and have extra fingers or toes. The authors emphasize that recognizing these symptoms early is important because it allows doctors to warn families about potential future complications and monitor the child more closely. This case is particularly noteworthy because very few cases of BBS have been reported from India, especially from northern regions of the country. This is a case report rather than a research study testing new treatments, so it doesn't introduce new therapies. Instead, it serves as an educational tool to help doctors better recognize and diagnose BBS in children.

Bardet-Biedl syndrome (BBS) is a genetic disorder affecting cilia and its functions and manifests floridly in late childhood as a multisystem disorder with the classical triad being polydactyly, atypical retinal dystrophy, and central obesity. So far, very few case reports have been reported from India and even fewer from North India. We are reporting a classic case of a 14-year-old boy presenting to the medicine outpatient department with features of lower respiratory tract infection, who, on work-up, was diagnosed as a case of BBS on clinical grounds. He underwent conservative treatment and, over the next 7 days of treatment with parenteral antibiotics and fluids, resumed in the state of normalcy. Obese children or adolescents with polydactyly must raise a suspicion in the minds of a physician and must warrant further investigations, so as to prognosticate the guardians well before complications set in.