(Kiosk 6) Prolonged Oral Phase Dysphagia in a Pediatric Patient with Wilson’s Disease on Trientene: A Case Report

Case Diagnosis: A 17-year-old girl with Wilson’s disease.

Case Description or Program Description: The previously healthy patient was recently diagnosed, via genetic testing, with Wilson’s disease – an autosomal recessive copper storage disease due to ATP7B mutation – after months-long worsening neuropsychiatric symptoms, dysphagia, shuffling gait, and hand tremors. She started first-line chelation therapy, penicillamine, which improved urine copper excretion; however, she was readmitted one week later with fever, rash, and worsening dysphagia concerning for an adverse penicillamine reaction. She was transitioned to second-line chelation with trientene and zinc sulfate and transferred to acute rehabilitation. Over several weeks, she improved from maximum-assist to supervision-level for activities of daily living with occupational therapy (OT) and ambulation with physical therapy (PT), doubling admission scores in Functional Gait Assessment and Berg Balance Scale, but she had persistent dysphagia, remaining nil per os (NPO) with a nasogastric tube (NGT) for weeks. Videofluoroscopic swallow study (VFSS) showed reduced oral phase swallowing efficiency with prolonged mastication and disorganized tongue movements, requiring suctioning of the food bolus. She eventually advanced to a regular diet so the NGT was removed on discharge. However, she was readmitted two weeks later for decreased urine copper excretion and worsening dysphagia, so the NGT was replaced.

Setting: Tertiary care hospital.

Assessment/Results: Despite progression to near-independence with PT/OT, this patient had prolonged, refractory oral phase dysphagia (9/18 oral impairment score on VFSS but minimal pharyngeal and esophageal impairment) likely due to neurologic manifestations of Wilson’s disease.

Discussion (relevance): To our knowledge, this is the first reported pediatric case of Wilson’s disease which caused specific oral phase dysphagia necessitating prolonged artificial nutrition. Transition from penicillamine to trientene has been associated with worsening neuropsychiatric symptoms in children.

Conclusions: In children who fail first-line treatment for Wilson’s disease, dysphagia may persist far beyond other functional deficits. Speech therapists can prioritize strategies to improve oral phase mechanics.