Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by diverse multisystem manifestations. This report discusses the unique otorhinolaryngological challenges faced by two pediatric siblings diagnosed with BBS. Case 1 involves a child with a history of chronic snoring, delayed developmental milestones, and a low intelligence quotient (IQ). The patient presented with obesity, retinitis pigmentosa, and a rare bifid epiglottis, adding to the complexity. Adenotonsillectomy was indicated due to chronic adenotonsillitis, but the presence of a grade 4 Mallampati score and restricted mouth opening required meticulous planning by the surgical and anesthesia teams. The collaborative approach led to a successful procedure, emphasizing the importance of interdisciplinary coordination in managing complex cases. Case 2, the younger sibling, presented with disturbed sleep cycles, mouth breathing, and difficulty swallowing. Adenotonsillectomy was performed for chronic adenotonsillitis, providing relief initially. However, recurrent adenoid hypertrophy, covering 90% of choanae, manifested two years later. The case highlights the need for long-term follow-up and raises questions about the underlying mechanisms contributing to recurrent adenoid hypertrophy in BBS. These cases underscore the rarity and intricacy of otorhinolaryngological manifestations in BBS, emphasizing the importance of comprehensive and multidisciplinary management. The challenges posed by anatomical abnormalities and recurrent adenoid hypertrophy necessitate ongoing research for effective long-term strategies in treating these complex genetic conditions. These findings contribute to the limited literature on BBS within the otorhinolaryngology domain and underscore the significance of continued collaboration and research efforts in optimizing patient care.