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Diabetes mellitus
1%
6/531
Kaiser-Fleischer rings
86%
459/531
Panacinar emphysema
2%
9/531
Increased serum ceruloplasmin
6%
33/531
Hepatocytes that stain with Prussian blue
12/531
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This patient has Wilson's disease that presents with neurological involvement (tremor). Patients with Wilson's disease with central nervous system (CNS) involvement almost always develop Kaiser-Fleischer rings. Wilson's disease is an autosomal recessive disease that results from a defective ATP7B gene. This mutation decreases the ability of the liver to secrete copper into the biliary system. Additionally, this mutation decreases the liver's ability to synthesize and secrete ceruloplasmin, the major copper-carrying protein, into the blood. These two effects combined increase the levels of free copper in the body, which may deposit in tissues such as the liver, brain, and the eyes (Descemet's membrane). Starr et al. describe the clinical presentations consistent with cirrhosis, a potential consequence of untreated Wilson's disease. Manifestations include ascites, yellowing of the skin (jaundice), as well as hepatomegaly and peripheral edema. They note it is also important to perform liver function tests looking for elevated levels of AST/ALT, which indicate current hepatic injury. Lorincz discusses the neurologic symptoms that are commonly seen in Wilson's disease. These include dysarthria, the most common neurological manifestation, as well as dystonia and tremor. The tremor is typically of the arms but may also involve the legs and head. Illustration A depicts Kaiser-Fleischer rings, a common manifestation seen in Wilson's disease, especially amongst patients with neurologic involvement. Illustration B diagrams the possible clinical presentations of Wilson's disease. Incorrect Answers: Answer 1: New onset diabetes mellitus in the setting of elevated metal levels would be more consistent with hemochromatosis (elevated iron). Answer 3: Deficiency of alpha1-antitrypsin would be consistent with panacinar emphysema. Answer 4: Decreased serum ceruloplasmin is seen in Wilson's disease. Answer 5: Hepatocytes that stain positive with Prussian blue would be more consistent with hemochromatosis.
4.4
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