Wilson’s disease characterised by all EXCEPT
**Core Concept**
Wilson's disease is a rare genetic disorder caused by a defect in the ATP7B gene, leading to an accumulation of copper in the liver, brain, and other organs. This results in copper toxicity, causing a range of clinical manifestations.
**Why the Correct Answer is Right**
Wilson's disease is characterized by chronic liver disease, characterized by liver damage and scarring, and can progress to cirrhosis and liver failure. The accumulation of copper in the liver can also lead to the formation of copper-containing proteins, such as ceruloplasmin, which is often reduced in patients with Wilson's disease. Additionally, Wilson's disease can cause neurological symptoms, including tremors, difficulty walking, and cognitive impairment, due to the accumulation of copper in the brain.
**Why Each Wrong Option is Incorrect**
**Option A:** Wilson's disease characteristically presents with Kayser-Fleischer rings, which are copper deposits in the cornea. This is a correct feature of the disease.
**Option B:** Liver dysfunction is indeed a hallmark of Wilson's disease, and patients often present with elevated liver enzymes and liver damage. This is a correct feature of the disease.
**Option C:** Neurological symptoms, including tremors, difficulty walking, and cognitive impairment, are common in Wilson's disease due to copper accumulation in the brain. This is a correct feature of the disease.
**Clinical Pearl / High-Yield Fact**
The Kayser-Fleischer ring is a pathognomonic sign of Wilson's disease, indicating copper accumulation in the cornea. This can be a useful diagnostic clue in patients with suspected Wilson's disease.
**Correct Answer: None of the above, Wilson's disease is characterised by chronic liver disease, neurological symptoms, and Kayser-Fleischer rings.**