A case of Laurence Moon Bardet Biedl syndrome

Abstract

Laurence Moon Bardet Biedl syndrome (LMBBS) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, obesity, hypogonadism, mental retardation and polydactyly. We present a case of 20-year-old male with history of intellectual delay, speech impairment and progressive vision loss. Presented with chief complaints of Breathlessness, oliguria, abdominal distension. Upon examination he is morbidly obese, short stature, pedal edema, facial puffiness, polydactyly of feet, micro penis and retinitis pigmentosa. He presented with primary pentad features of LMBBS with CKD stage 5 for which he was started on hemodialysis. He also had secondary features of speech delay, developmental delay, dental crowding, high arched palate and ventricular hypertrophy. Management of LMBBS is supportive. genetic counselling of affected families raises awareness about need to get the other family members assessed for renal and cardiovascular problems.