Bardet–Biedl syndrome: expect the unexpected, suspect the unsuspected

Abstract

This is the first reported description of Bardet-Biedl syndrome (BBS) with the combination of a malacic bifid epiglottis and anterior laryngeal web. Anaesthesia for BBS has numerous concerns and these are reviewed, focusing on features that manifest not only in BBS but across a spectrum of syndromes that impact airway management. Congenital laryngeal anomalies (CLA) are rare and usually present preoperatively with upper airway obstruction and stridor. In asymptomatic infants, CLA may cause unexpected airway problems under anaesthesia which can be mistaken for more common occurrences, such as laryngospasm. Preoperative dysphonia may be the only clue to suspecting the presence of a CLA. The combination of obesity, polysyndactyly/brachydactyly and even subtle craniofacial abnormalities should always alert the anaesthetist to the possibility of a CLA and difficult airway.

Bardet Biedl Syndrome: Insights for the Oral Healthcare Provider

“…In case of BBS patients requiring operation under a general anaesthetic, such as a facial bone fracture repair or tumour/cyst excision involving the jaws, features such as dental anomalies, high arched palate, facial dysmorphism and morbid obesity may present with significant airway difficulties or impede mask ventilation [2,43]. Presence of a bifid epiglottis has been reported to further complicate establishment of a secure airway, wherein use of fibre optic laryngoscopy or video laryngoscopy could prove vital [2].…”

“…They suggested that maintenance of good intra operative hydration would circumvent this problem. Cronje described the first case of BBS with a laryngeal web along with a malacic bifid epiglottis, creating difficulties in intubation and airway management [2]. Fibre optic bronchoscopy is considered the 'gold standard' for an unexpected difficult airway [2].…”

“…BBS is classified under ciliopathies, a genetic disorder that affects cellular cilia, their function, or the basal bodies of cells [1]. The cilia are cellular organelles that can be found on the surface of almost all eukaryotic cells and assist in sensory perception and cell motility [2]. Primary cilia have the role of sensing and transducing extracellular signals to control many cellular, developmental and physiological processes in the human body.…”

“…Primary cilia have the role of sensing and transducing extracellular signals to control many cellular, developmental and physiological processes in the human body. Therefore, cilia regulate and coordinate several intracellular signalling pathways involved in vertebrate development (stem cells) and tissue homeostasis, while also acting as secretory organelles [2]. Therefore, the fact that cilia are widely expressed in mammalian tissues impresses upon the logical conclusion that ciliary defects would result in several developmental defects and diseases.…”

Retinal Dystrophy, Obesity and Hypertension in an Adolescent Boy

“…Genetic testing confirms the diagnosis in most cases. However, diagnosis is primarily clinical [3] .…”