Bardet–Biedl syndrome with steatohepatitis: a rare case

Abstract

Bardet Beidl Syndrome is rare, autosomal recessive multisystem disorder. An 11 years old male presented to Ophthalmic OPD in a tertiary health centre of Central India with complaints of diminution of vision in both eyes especially at night, difficulty in speech, and abdominal distension. He also had history of delayed developmental milestones. On general examination, he had truncal obesity, polydactyly and hypogonadism. Abdominal ultrasound revealed cholelithiasis with nodular fatty liver. On dental examination, he had microglossia and high arched palate. Pure tone audiometry showed normal hearing sensitivity. Psychiatric evaluation revealed severe mental retardation. A comprehensive ophthalmic examination showed a visual acuity of 20/240 both eyes, telecanthus with prominent epicanthal folds in both eyes, depressed nasal bridge and sparse eyebrows and eyelashes. Fundus examination showed retinitis pigmentosa. OCT revealed generalized retinal thinning and reduced foveolar depression. Laboratory examination including complete blood count, urinalysis, renal function tests,thyroid function tests were within normal limits. Since there is no proven effective treatment to prevent or alleviate vision deterioration in these patients, spectacles and low vision aids were prescribed, regular ophthalmological follow up along with screening of family members was advised.