Physical examination of a 23-year-old man diagnosed with chronic hepatitis shows corneal changes that are visible to the naked eye, as shown in the image below. This patient is most likely to have which of the following conditions?

Question

Physical examination of a 23-year-old man diagnosed with chronic hepatitis shows corneal changes that are visible to the naked eye, as shown in the image below.  This patient is most likely to have which of the following conditions?

Quizplus · Accepted Answer

The image demonstrates a Kayser-Fleischer ring, an ophthalmologic finding most strongly associated with Wilson's disease (although it can also be seen in chronic cholestatic diseases such as primary biliary cirrhosis). Kayser-Fleischer rings are best identified on slit-lamp examination, but they can be observed grossly, especially with long-standing, untreated disease. The rings are formed through the granular deposition of copper within Descemet's membrane in the cornea. Wilson's disease is a rare, autosomal recessive disease most often identified in individuals 5-40 years old. The genetic mutations associated with Wilson's disease hinder copper metabolism by reducing the formation and secretion of ceruloplasmin and decreasing hepatic secretion of copper into the biliary system. Copper is a pro-oxidant and causes damage to hepatic tissue through the generation of free radicals. Eventually, it leaks from injured hepatocytes into the circulation to be deposited in various tissues, including the cornea and basal ganglia. Atrophy of the basal ganglia then ensues. Treatment is life-long and focuses on removing accumulated copper in the tissues and preventing its re-accumulation. First-line medications include copper chelators such as d-penicillamine and trientine. (Choice A) Pulmonary emphysema commonly develops in patients with alpha-1 antitrypsin deficiency. (Choice B) Diabetes mellitus commonly develops in patients with advanced hemochromatosis. It has no association with Wilson's disease. (Choice D) Renal cancer (clear cell carcinoma) occurs more frequently in patients with von Hippel-Lindau disease, not Wilson's disease. (Choice E) Hypertrophic cardiomyopathy presenting in childhood and adolescence is an autosomal dominant disease involving the cardiac sarcomere. It is not associated with Wilson's disease. (Choice F) Congenital deafness can develop secondary to numerous hereditary and nonhereditary conditions. Wilson's disease has no association with congenital deafness. Educational objective: The Kayser-Fleischer ring is an ophthalmologic finding most strongly associated with Wilson's disease. It is seen most frequently in patients with neuropsychiatric complications. Basal ganglia atrophy is typically present in these patients.

Physical Examination of a 23-Year-Old Man Diagnosed with Chronic Hepatitis