Bardet–Biedl syndrome in a 32-year-old Iranian female

This figure shows the hexadactyly of feet and severe inflammation of the lower limbs of a 32-year-old Iranian female patient with Bardet–Biedl syndrome (BBS) who was referred to us with uraemic symptoms and metabolic acidosis. She had suffered from insulin-resistant type 2 diabetes mellitus for 2 years and moderate hypertension for 6 months. Her parents had noticed progressive decline in her vision and hearing since the age of 7 years. She had mild mental retardation. She had irregular menstrual periods but her secondary sex characteristics were normal. Her parents were not consanguineous. On physical examination, the patient was markedly obese with a body mass index of 31.4 Kg/cm. She was dyspnoeic and often unwell. The blood pressure was 190/100 mmHg, axillary temperature 39°C, respiratory rate 22 beats/min, and heart rate 78 beats/min. Fundus examination revealed pigmentary retinopathy. Both lungs had coarse crackle in the basal field. Cardiac, abdominal and genital examinations were normal. On admission, her blood glucose level was 482 mg/dL, blood urea nitrogen 190 mg/dL and serum creatinine 12.6 mg/dL. Blood revealed metabolic acidosis. Ultrasonography also showed bilateral small-sized high echogenic kidneys without cyst and hydronephrosis. BBS is a rare autosomal recessive disease characterized by the abdominal obesity, mental retardation, pigmentary retinopathy, polydactyly and hypogenitalism. The degree of polydactyly, a prominent feature of this syndrome, varies from patient to patient, ranging from a wide fifth metatarsal or metacarpal to a complete sixth digit.