A 28-year-old woman is brought to the physician because of progressive difficulty walking, slowed speech, and a tremor for the past 5 months. Medical history is notable for depression over the past year. Her grandfather died of bleeding esophageal varices at the age of 42 years. She does not drink alcohol. She is alert and oriented but has a flat affect. Her speech is slurred and monotonous. Examination shows a broad-based gait and a low-frequency tremor of her left hand. Abdominal examination shows hepatosplenomegaly. The most likely cause of this patient's condition is an abnormality in which of the following physiologic processes?

Question

A 28-year-old woman is brought to the physician because of progressive difficulty walking, slowed speech, and a tremor for the past 5 months. Medical history is notable for depression over the past year.  Her grandfather died of bleeding esophageal varices at the age of 42 years. She does not drink alcohol. She is alert and oriented but has a flat affect. Her speech is slurred and monotonous. Examination shows a broad-based gait and a low-frequency tremor of her left hand. Abdominal examination shows hepatosplenomegaly. The most likely cause of this patient's condition is an abnormality in which of the following physiologic processes?

Quizplus · Accepted Answer

Eductional Objective: The decrease in copper transport through the cell causes an accumulation of copper, especially within the liver, CNS (basal ganglia, brain stem, cerebellum), and cornea (Kayser-Fleischer rings). Wilson disease is caused by defective copper transport within hepatocytes, which leads to impaired biliary excretion of copper.  Wilson disease typically presents with a combination of hepatic symptoms (e.g., hepatosplenomegaly, cirrhosis), neurologic symptoms (e.g., dysarthria, gait disturbance, tremor), and psychiatric symptoms (e.g., flattened affect).

A 28-Year-Old Woman Is Brought to the Physician Because of Progressive