Bardet-Biedl syndrome presenting with early-onset infantile obesity

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder.
• Common BBS features include polydactyly, obesity, retinal degeneration, intellectual disability, kidney issues, and hypogonadism.
• Infantile obesity is a frequent early clinical finding in BBS.

Purpose of the Study:

• To report a case of BBS diagnosed in infancy.
• To highlight the role of early-onset obesity in suspecting syndromic obesity.
• To emphasize the importance of genetic investigations for BBS diagnosis.

Main Methods:

• Clinical presentation of an infant with obesity, micropenis, and polydactyly.
• Whole-exome sequencing to identify genetic mutations.
• Diagnosis confirmation through homozygous BBS4 gene mutation.

Main Results:

• An infant presented with syndromic features including infantile obesity and polydactyly.
• Whole-exome sequencing identified a homozygous BBS4 gene mutation, confirming BBS.
• The child was managed and discharged, with setmelanotide planned for weight management.

Conclusions:

• Early-onset obesity is a critical diagnostic clue for genetic syndromes like BBS.
• Next-generation sequencing is crucial for the definitive diagnosis of BBS.
• Recognizing infantile obesity aids in timely genetic investigations and management.