A 25-year-old man is brought to the emergency department by his family due to progressive worsening confusion, irritability, and hand tremors over the past few months. His past medical history is significant for depression, for which he takes fluoxetine. He reports no alcohol or illicit drug use. His vital signs are within normal limits. Physical examination reveals hepatomegaly with a firm and non-tender liver but no splenomegaly. Neurological examination shows a resting tremor and dysarthria. Laboratory results are as follows:
A slit-lamp examination reveals golden-brown rings at the corneal margin. Which of the following is the most likely diagnosis?
E) Wilson disease
This patient presents with both hepatic and neuropsychiatric symptoms, including confusion, irritability, hand tremors, and dysarthria, along with hepatomegaly and elevated liver enzymes. The presence of Kayser-Fleischer rings on slit-lamp examination is a hallmark of Wilson disease, an autosomal recessive disorder caused by defective copper transport leading to copper accumulation in tissues. The diagnosis is confirmed by decreased serum ceruloplasmin and increased urinary copper excretion.
Answer choice A: Alpha-1-antritrypsin deficiency, is incorrect. Alpha-1-antitrypsin deficiency (AATD) typically causes liver disease and emphysema but would not present with neuropsychiatric symptoms.
Answer choice B: Hemochromatosis, is incorrect. Hemochromatosis involves iron overload causing liver disease, diabetes, and skin pigmentation but is not associated with the neuropsychiatric symptoms and Kayser-Fleischer rings seen in this patient.
Answer choice C: Huntington disease, is incorrect. Huntington disease presents with motor, cognitive, and psychiatric symptoms but does not cause liver disease or Kayser-Fleischer rings.
Answer choice D: Serotonin syndrome, is incorrect. Serotonin syndrome results from excess serotonergic activity and presents with hyperreflexia, autonomic instability, and mental status changes but does not cause liver disease or Kayser-Fleischer rings.
Key Learning Point
In a young patient with hepatic and neuropsychiatric symptoms, including hepatomegaly, tremors, dysarthria, and Kayser-Fleischer rings on slit-lamp examination, Wilson disease should be suspected.
