A 19-year-old woman is bothered by a tremor at rest, which becomes progressively worse over the next 6 months. She exhibits paranoid ideation with auditory hallucinations and is diagnosed with acute psychosis. On physical examination, she has scleral icterus. A slit-lamp examination shows corneal Kayser-Fleischer rings. Laboratory findings include total serum protein, 5.9 g/dL; albumin, 3.1 g/dL; total bilirubin, 4.9 mg/dL; direct bilirubin, 3.1 mg/dL; AST, 128 U/L; ALT, 157 U/L; and alkaline phosphatase, 56 U/L. Which of the following additional serologic test findings is most likely to be reported in this patient?
A 19-year-old woman is bothered by a tremor at rest, which becomes progressively worse over the next 6 months. She exhibits paranoid ideation with auditory hallucinations and is diagnosed with acute psychosis. On physical examination, she has scleral icterus. A slit-lamp examination shows corneal Kayser-Fleischer rings. Laboratory findings include total serum protein, 5.9 g/dL; albumin, 3.1 g/dL; total bilirubin, 4.9 mg/dL; direct bilirubin, 3.1 mg/dL; AST, 128 U/L; ALT, 157 U/L; and alkaline phosphatase, 56 U/L. Which of the following additional serologic test findings is most likely to be reported in this patient?
π‘ Explanation
**Core Concept**
This patient presents with symptoms of acute psychosis, tremor at rest, scleral icterus, and corneal Kayser-Fleischer rings, which are characteristic of Wilson's disease, a genetic disorder causing copper accumulation in the liver and brain.
**Why the Correct Answer is Right**
Wilson's disease is caused by mutations in the ATP7B gene, leading to impaired copper excretion. The patient's laboratory findings, including elevated total and direct bilirubin levels, AST, and ALT, suggest liver involvement. The presence of corneal Kayser-Fleischer rings is a hallmark of Wilson's disease, indicating copper deposition in the cornea. The patient's acute psychosis and tremor at rest may be due to copper accumulation in the brain. The most likely additional serologic test finding in this patient is a low serum ceruloplasmin level, which is a protein responsible for transporting copper in the bloodstream.
**Why Each Wrong Option is Incorrect**
**Option A:** Elevated serum ceruloplasmin levels are not associated with Wilson's disease; they are often normal or elevated in patients with this condition.
**Option B:** A high serum iron level is not a characteristic finding in Wilson's disease; it may be seen in hemochromatosis, a different genetic disorder.
**Option C:** Elevated serum creatine kinase (CK) levels are not a specific finding in Wilson's disease; they may be seen in a variety of neuromuscular disorders.
**Option D:** Low serum iron levels are not typically associated with Wilson's disease; they may be seen in iron deficiency anemia.
**Clinical Pearl / High-Yield Fact**
Wilson's disease can be diagnosed using a combination of clinical findings, laboratory tests, and genetic analysis. The Kayser-Fleischer ring is a key diagnostic feature, and a low serum ceruloplasmin level is often seen in affected individuals.
**Correct Answer: C. Elevated serum ceruloplasmin levels are not associated with Wilson's disease; they are often normal or elevated in patients with this condition.**
β Correct Answer: B. Decreased ceruloplasmin level
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