Wilson's disease with extensive white and gray matter MRI abnormalities: a case report

ABSTRACT

Wilson disease is an autosomal recessive disease, characterized by excessive accumulation of copper in the body, particularly in the liver, brain, cornea and kidney, with variable clinical manifestations. The outcome of treatment depends on early diagnosis of the disease before major irreversible tissue destruction occurs. Early diagnosis might be difficult because of its diverse clinical manifestations. We herein report on a patient with severe clinical and imaging manifestations. The patient showed cerebral atrophy and extensive abnormalities in frontal lobes, the putamen, the thalami, cerebral peduncles and posterior aspects of the occipital lobes. Such wide spread changes involving the white matter as well as the gray matter is rarely reported