DR. SHREYA SONI

DR.ATUL MISHRA, DR. SAMIA RAHMAN, DR.AFTAB ALAM

Abstract

A 19 year old male patient initially admitted for history of recurrent non-healing scrotal ulcer and epididymo-orchitis with type 1 diabetes mellitus 2 weeks back in the department of general surgery

was referred for evaluation of difficulty in vision since childhood which was more in the night. On examination patient had Height is less for age Short neck, Gynaecomastia, Central obesity, pigmented macular lesions in abdomen and other body parts sparsely spread, Polydactyly present in both upper and lower limbs, Hypogonadism with encysted hydrocele and non healing scrotal ulcer, Ataxia and poor coordination. On eye examination visual acuity best corrected in both eyes was 1/60 and fundus examination showed arteriolar attenuation with waxy disc pallor and few peripheral bony spicules suggestive of Retinitis pigmentosa in both eyes. Patient was diagnosed hence with Laurence Moon Bardet Biedel Syndrome