Bardet-biedel syndrome: a case report and a review of literature

Abstract

Background: Bardet- Biedl syndrome (BBS) is a group of autosomal recessive conditions with overlapping phenotype of rod-cone dystrophy, central obesity, mental retardation, and hypogonadism. There are very few
reports of BBS from Sub-Saharan Africa.

Objective: To report a case of BBS and review existing literature on BBS, highlighting the challenges in its management in a resource poor setting.

Methods: A 17 year old girl presented for evaluation. A full history and physical examination were performed. Investigations carried out include basal hormonal profile, pelvic ultrasound, bone age determination and brain imaging.

Results: The patient presented with blindness worse at night, obesity, delayed developmental milestones, learning difficulties and delayed puberty. She had a short neck, acanthosis nigricans, brachydactyly and hirsuitism. There was a positive family history of similar problems in her younger sister who also had polydactyly and bladder instability but had not been investigated. The parents had difficulty coping with their care especially their educational needs in view of the multiplicity of their problems. The patient weighed 80kg, was 1.43 m tall (BMI-39.1kg/m²), had arm span 1.23m, crown-pubis 0.73m, pubis-heel 0.70m, waist circumference 0.88m, hip circumference 1.22m. Opthalmologic evaluation revealed rotary nystagmus, astigmatism, reduced visual acuity and retinal pigment mottling. Oral glucose tolerance test (OGTT) revealed normal glucose tolerance. Basal hormone profile showed hypogonadotrophic hypogonadism, normal thyroid function and hyperinsulinaemia. Her bone age was appropriate for chronological age. Her parents sought contact with BBS groups due to the challenges in educational needs and care being experienced.

Conclusion: Management of BBS involves a multidisciplinary approach the burden of which can be overwhelming for care- givers, moreso in a resource constraint setting as ours.

Keywords: Biedl- Bardet syndrome, night blindness, Nigeria