Physiotherapy management in a rare triallelic bardet- beidl syndrome

Abstract

The Bardet–Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, which is characterized principally by cardinal symptoms of marked central obesity, retinal dystrophy, polydactyly, mental retardation and hypogonadism and renal dysfunction.We report a case of 24 year old boy with Bardet-Biedl Syndrome, having classical symptoms like central obesity, hypogonadism, brachydactyly and strabismus. Laboratory investigations show reduced hemoglobin (6.1) and reduced WBC (700). Kidney function test (KFT) revealed an increased Urea level (130 mg/dl) and creatine (6.6mg/dl). Liver function test revealed (LFT) near normal bilirubin levels (1.4 mg/dl). CXR revealed subpleural fibrotic bands. Physiotherapy intervention included positioning, breathing re-training, chest PNF techniques, limb mobility exercises and HEP. The evidence from this study suggest that inpatient physiotherapy intervention plays a vital role in managing a patient with a rare case of Bardet-beidl syndrome. Early physiotherapy intervention has proven to be effective on this rare ciliopathic human autosomal-recessive disorder in ICU setup.