Bardet-Biedl Syndrome in a 10-Year-Old Child: Clinical Observation and Literature Review

Abstract

Aims: To report a pediatric case of Bardet-Biedl syndrome (BBS) and discuss its clinical, diagnostic, and therapeutic aspects in light of current literature. Study Design: Case report and literature review. Place and Duration of Study: Department of Pediatrics, Hôpital Militaire d’Instruction Mohammed V, Rabat, Morocco, 2024. Methodology: We describe a 10-year-old boy, born from a first-degree consanguineous marriage, who presented with growth retardation, obesity, facial dysmorphism, polydactyly, brachydactyly, micropenis, learning difficulties, and decreased visual acuity. Clinical, radiological, ophthalmological, renal, and genetic investigations were performed. Results: The child exhibited multiple features suggestive of Bardet-Biedl syndrome: polydactyly of hands and feet, obesity, retinal dystrophy with extinguished electroretinogram, renal anomalies (horseshoe kidney with asymmetric function), and learning difficulties. Genetic testing was initiated but results were pending at the time of reporting. Symptomatic and multidisciplinary management was initiated (Novas et al., 2015). Conclusion: Bardet-Biedl syndrome is a rare multisystem ciliopathy. Early recognition, even in the absence of genetic confirmation, is essential for timely multidisciplinary management. Visual and renal complications largely determine long-term prognosis.