Kayser-Fleischer Ring with neurologic manifestations
The clinical image has captured a dense deposit of copper in Descemet’s membrane known as Keyser-Fleischer ring in a 17-year-old girl with a history of Wilson’s disease. She was under treatment with dimercaprol and penicillamine for eight years after which the Kayser-Fischer rings resolved completely.
Kinnear Wilson first described Wilson’s disease in 1912. It is a rare autosomal recessive disease with decreased biliary copper excretion and deposition of copper throughout the body. Especially in the liver, brain, kidneys and cornea. The disease is caused because of genetic mutations on chromosomes found in the liver. Patients with Wilson’s disease present with signs of neuropsychiatric disease, such as, behavioural changes, incoordination, tremors, movement disorders, hemolytic anaemia, acute renal failure, fulminant hepatic failure and liver disease.
While the disease is more prevalent between the 1st and 4th decades of life, it can present at any age
The disease is reported in 1 in 30,000 people worldwide. If left untreated, it can cause death. Patients are commonly treated with penicillamine, trientine, and/or zinc therapy (copper chelation treatments) as well as low copper diets. In advance cases, liver transplantation is a life-saving treatment option.
A Kayser-Fleischer ring is formed by the deposition of copper in the Descemet membrane in the limbus of the cornea. The rings are well-developed and range from greenish gold to brown. They are readily visible to the naked eye or with an ophthalmoscope set at +40. If the rings are not visible to the unaided eye they can be identified using slit-lamp examination or gonioscopy. It is symptomatic in 90% of individuals with Wilson’s disease and presents with neurological manifestations. However, it is not considered a pathognomonic of Wilson’s disease unless it presents with neurologic manifestations as the disease may also present with chronic cholestatic disorders.
Source: NEJM
