Anesthetic management of a patient with Bardet-Biedl syndrome undergoing renal transplantation

Abstract

Introduction: Bardet-Biedl syndrome, which compromises airway management and the cardiovascular and renal systems, is a rare ciliopathic syndrome characterized by multisystem involvement and varying genetic etiologies and clinical manifestations. Patient concerns: A 13-year-old female patient had a history of chronic renal failure, hypothyroidism, mental retardation, hypogonadotropic hypogonadism, obesity, and retinitis pigmentosa and was undergoing 4-hour hemodialysis 3 days a week. Diagnosis: We diagnosed Bardet-Biedl syndrome based on the results of genetic tests. Interventions: We performed renal transplantation under general anesthesia while considering the perioperative risks of airway obstruction and hypothermia. Outcomes: Multidisciplinary preoperative evaluation is crucial to avoid perioperative complications. The risk of an obstructed airway should be considered. Hypothyroidism is a rare consequence of Bardet-Biedl syndrome. Rocuronium and sugammadex are safe for anesthetic management during renal transplantation to address Bardet-Biedl syndrome. Conclusion: Safe anesthetic management can be achieved with the rigorous preoperative assessment of perioperative complications.

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

“…56 When anesthesia is required, it is necessary to have a multidisciplinary preoperative evaluation for the risk of airway obstruction and the risks related to cardiovascular, kidney and/or endocrine diseases. 125 Appropriate planning (also for dental operations) is important to avoid perioperative and postoperative complications, considering concomitant medications and all the features of the syndrome, such as obesity, anxiety, structural cardiopathy (eg, risk of endocarditis), autistic-like behavior. 51 In 2011, an interesting case report described the resolution/improvement of clinical abnormalities that was maintained at least for three years (when case report was published) after that a child was treated with dietary supplementation (based on detailed biochemical testing that showed multiple nutrient deficiencies).…”