499 - Dental Challenges Due to RYR1 Related Diseases

 “RYR1-related diseases” is an umbrella term which covers a range of ryanodine receptor 1 (RYR1) mutations that affect the neuromuscular system in humans. Clinically this disease results in muscle weakness, atrophy, hypotonia, hyporeflexia, and delayed motor development. This case report discusses a 10 year old male patient who was referred to University Hospitals Rainbow Babies and Children’s Hospital after a CT chest scan identified one primary tooth in his left main bronchus and two primary teeth in the piriform sinus. This 10 year old patient’s medical history is significant for chronic respiratory failure due to RYR1 mutation with subsequent tracheostomy and ventilator dependence, congenital myopathy, congenital scoliosis, G-tube dependence, neurogenic dysphagia, and arthrogrypsosis. Current medications are albuterol with IPV, flovent inhaler, and azithromycin. The patient has no reported drug allergies. While under general anesthesia to remove the tooth from the bronchus and the two teeth from piriform sinus, the patient had severe trismus restricting access to the oral cavity with ENT instrumentation, so pediatric pulmonology performed a bronchoscopy. Following retrieval of primary teeth the dental team conducted our exam and the remaining over-retained primary teeth were removed. This report will include more information about the findings from our dental exam following the removal and in hope better inform clinicians who have patient’s with RYR1 related diseases to know about the possibility of events like these happening.

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