When Speech Signals Wilson Disease: A Case Report

Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism that usually presents with a wide spectrum of seemingly unrelated symptoms, such as dysarthria, tremors, dystonia, features of advanced liver disease, and psychiatric manifestations. Atypical presentation may lead to delayed diagnosis. We present the case of a 25-year-old man who presented with slurred speech and abdominal distension. Workup revealed the presence of Kayser-Fleischer rings, reduced serum ceruloplasmin levels, elevated 24-hour urinary excretion of copper, and decompensated liver disease. Magnetic resonance imaging (MRI) of the brain was significant for altered signals in the basal ganglia, thalami, and periventricular white matter. He was diagnosed with WD and commenced on D-penicillamine and zinc therapy, with clinical improvement on follow-up. This case signifies that WD must be considered in any adult presenting with unexplained neurological symptoms. Early diagnosis is essential to prevent disease progression and complications.