Bardet-Biedl Syndrome- Polydactyly with Multifarious Defects - A Rare Case Report

Author(s): Rejinraj P.K.1 , Sumesh Chacko2 , John Nobel Thomas3 , Sukanya K.4 , Punnose Thomas Puthuveettil5

A 21-year-old Indian woman presented to the Emergency Department with symptoms of New York Association Class 2 dyspnoea for the last 3 weeks, pedal oedema of 2 weeks duration and decreased urine output since 3 days. She was the first born child of a nonconsanguineous marriage. She has a younger brother (15 years of age and normal development). The perinatal period had been uneventful. She had equinovarus deformity at birth. Her developmental history was marked by delayed attainment of motor milestones and delay in speech. She underwent surgery for equinovarus deformity at the age of four. She had language deficits and poor schooling skill and she could study up to 12th standard and had written examination with helper. She developed difficulty in night vision around 6th year and completely dependable by 10th year. There was delay in development of her secondary sexual characters and she attained menarche at the age of 18. She had multiple hospital visits for hypothyroidism, which was detected since 10 years of age, now on thyroxin 150 mg daily, but the underlying disease was left undiagnosed. She was not detected to have hypertension in the past. Sudden worsening of breathlessness and bilateral pedal oedema with decreased urine output made her to present to our Hospital’s Emergency department.