Aims: Potocki-Lupski syndrome (PTLS), which is caused by the partial duplication of the short arm of autosome 17, is characterized by feeding difficulties associated with muscle hypotonia and dysphagia in infancy, followed by growth retardation and low body weight in later stages. Speech and motor developmental disorders are observed in childhood, accompanied by autism spectrum disorders in several cases. Other disorders include dental and skeletal abnormalities, and associated sleep apnea. Herein, we describe the first case of dental evaluation and treatment under intravenous sedation in a patient with PTLS.
Methods: A 13-year-old boy with PTLS and intellectual disability was referred for the treatment of dental caries. Routine intraoral examination and dental treatment were not feasible. As the patient had no muscle hypotonia, dysphagia, or severe growth delay, intraoral examination and dental treatment were successfully performed under intravenous sedation. No incidence of intraoral airway obstruction or aspiration was reported. The patient was followed-up post-operatively.
Conclusion: PTLS, a newly identified syndrome, is associated with cardiovascular abnormalities, dysphagia, failure to thrive, and sleep apnea, which are potential risk factors for sedation. This case report highlights the importance of facial and oral findings in determining the risks of difficulties in airway management.
Keywords: Potocki–Lupski syndrome; dysphagia; growth retardation; intravenous sedation.
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