Pharyngeal dysmotility in a patient with wilson’s disease

Wilson’s disease (WD) is an inherited inborn error of copper metabolism. Patients develop tremor, rigidity, dysarthria, sialorrhea, dysphagia, intracorneal pigmentation, and psychiatric and hepatic disease. Dysphagia may progress to such a degree that the patient is unable to eat. Few reports have detailed the nature of the swallowing dysfunction in patients with WD. Previous reports have shown upper esophageal dysmotility, but none has analyzed pharyngeal motility. We performed a videofluoroscopic swallowing evaluation on a 49-year-old woman with WD who had a history of progressive dysphagia. Videofluoroscopy showed significant pooling of swallowed material in the valleculae and pyriform sinuses, suggesting a reduction in pharyngeal peristalsis. Pooled material in the valleculae was cleared only after repeated swallowing of liquid. These findings suggest that dysphagia in WD may involve pharyngeal as well as esophageal dysmotility. Pharyngeal dysmotility is important to identify, since this places the patient at risk for aspiration pneumonia. Documentation of this finding in these patients is also important for the therapeutic management of their swallowing. Such findings could prove to be of diagnostic value in identifying the disease and monitoring its progression.