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 12 th standard and had written examination with helper. She developed difficulty in night vision around 6 th year and completely dependable by 10 th 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. On examination she was 160 cm tall and weighed 78 Kg, with a body mass index (BMI) of 30.5 Kg/m 2. She was having night blindness with tunnelled vision, central obesity, round face, postaxial polydactyly (24 fingers: figures 1, 2 & 3). She had severe pallor, bilateral pitting pedal oedema, acanthosis nigricans and was having hypertension with Blood Pressure 220/130 mmHg, Respiratory rate 40/mt. Cardiovascular exam showing low volume pulse, Pulse Rate 108 beats/min., with auscultation of the chest showed bilateral crepitation and congestive cardiac failure features. The patient had poor breast development and hair over the genitalia was sparse. There was no organomegaly on abdominal examination. Neurological exam was normal. The fundus examination showed features of atypical Retinitis pigmentosa (figure 4).