Bardet-Biedl syndrome presenting with early-onset infantile obesity.

This research describes a baby boy who developed obesity very early in infancy along with other signs like extra fingers (polydactyly) and underdeveloped genitals. Doctors suspected a genetic condition called Bardet-Biedl syndrome (BBS), which is a rare inherited disorder that affects multiple parts of the body including causing weight gain, vision problems, kidney issues, and learning difficulties. They used advanced genetic testing called whole-exome sequencing and found the child had mutations in a gene called BBS4, confirming the diagnosis. The key finding is that severe obesity starting in infancy can be an important early warning sign of BBS, even before other symptoms become obvious. This is significant because early recognition could lead to faster diagnosis and better care for children with this condition. For treatment, the doctors mention planning to start a medication called setmelanotide when the child reaches 2 years old to help manage his weight. This case shows how genetic testing can help identify the specific cause of a child's symptoms and potentially guide treatment decisions. The researchers emphasize that when doctors see unexplained early obesity in babies, they should consider genetic testing to check for conditions like BBS.

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder. Polydactyly, obesity, pigmentary retinal degeneration, intellectual disability, kidney abnormalities and hypogonadism are common features. We report an infant who presented with obesity, micropenis, polydactyly and syndromic features, raising suspicion of a genetic syndrome. Infantile obesity is among the most common clinical findings in BBS. Whole-exome sequencing confirmed a mutation in the BBS4 gene which was homozygous and associated with BBS. The child was discharged in stable condition after 11 days of hospitalisation. On follow-up after 2 years of age, setmelanotide is planned to be initiated for his weight management. Infantile obesity, a rare and early manifestation, played a pivotal role in suspecting syndromic obesity, leading to targeted genetic investigations. The case highlights the importance of recognising early-onset obesity as a diagnostic clue for genetic syndromes by performing next-generation sequencing critical to make firm diagnosis of BBS.