Atypical Presentation of Retrograde Cricopharyngeus Dysfunction in a Patient With Gilles de la Tourette Syndrome

Retrograde cricopharyngeus dysfunction (R-CPD) is a newly classified syndrome in which a person is unable to burp, submitting them to socially debilitating symptoms of abdominal distension, gurgling noises from the throat and excessive flatulence. We discuss the case of a man in his 30s with Gilles de la Tourette syndrome, who acquires R-CPD following a period of transient dysphagia. The patient experienced years of inconclusive investigations and failed treatments before discovering the condition online and proposing it to his ENT specialist. He was treated with a botulinum toxin (BT) injection into the cricopharyngeus muscle, which showed an initial positive benefit. This case report emphasises the importance of considering R-CPD in patients presenting with similar symptoms. We discuss the diagnostic and therapeutic uses of BT and the additional challenges of a concurrent diagnosis of Tourette syndrome. The awareness of R-CPD amongst medical practitioners is vital to ensure its timely diagnosis, ultimately preventing unnecessary treatments and patient distress.