Bardet-Biedl Syndrome Presenting With Metabolic Syndrome and Situs Inversus Totalis During Childhood

摘要

Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disorder characterized by central obesity, cognitive impairment, speech and behavioral abnormalities, limb abnormalities such as syndactyly, poSydactyly, brachydactyly, rod-cone dystrophy of the retina sometimes called atypical retinitis pigmentosa, hypo-gonadism (only in males), and structural or functional renal abnormalities Diabetes mellitus and hypertension can accompany the syndrome Although there are adult BBS cases with the metabolic syndrome, there is only one child with BBS reported to have the metabolic syndrome We present a 15-year-old girl with BBS who has both the metabolic syndrome and situs inversus totalis, a tare manifestation of the syndrome