Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism

Abstract

Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation, and renal dysfunction. We are presenting a 20-year-old male patient exhibiting characteristic features of BBS in association with nonalcoholic steatohepatitis, hypertension, and hypothyroidism, which is uncommon. Literature is also reviewed in brief.

Keywords

• Bardet–Biedl syndrome
• hypertension
• hypothyroidism
• nonalcoholic steatohepatitis
• obesity
• polydactyly
• retinitis pigmentosa