Wilson Disease (Hepatolenticular Degeneration): Symptoms, Causes, Diagnosis, MRI Findings, and Treatment Guide

pediagenosis    July 02, 2026    Nervous , Organ , science    Comment   

Also known as hepatolenticular degeneration, Wilson disease is an autosomal recessive disorder that occurs in 1 of 30,000 individuals. The abnormal gene, the ATP7B (adenosine triphosphate) gene, is located on chromosome 13. The defective protein, adenosine triphosphatase (ATPase), is involved in the transport and incorporation of copper into ceruloplasmin and the vesicular compartment near the canalicular membrane for further bile excretion.

Although a neurologic disorder, it affects multiple organs, with the liver being the most common and earliest affected. Approximately 40% of newly diagnosed cases have hepatic involvement. Neurologic manifestations include dysarthria, dystonia, rigidity, wing beating tremor, and choreoathetosis. Children younger than 10 years rarely present with neurologic involvement. Progressive dementia, antisocial behavior, impulsivity, and decreased intellectual performance further complicate the disease and are important manifestations. The Kayser-Fleischer ring, the classic ophthalmologic sign of the disease, is a yellow­brown discoloration of the Descemet membrane, best demonstrated by slit­lamp examination. In addition, sunflower cataracts may be noted. Careful bedside ophthalmologic evaluation may reveal Kayser­Fleischer rings in suspected cases. Other features include hemolytic anemia, renal failure with tubular dysfunction, nephrolithiasis, cardiomyopathy, hypoparathyroidism, amenorrhea, and testicular atrophy.

Diagnosis requires a strong index of suspicion and should be considered in all patients, particularly those younger than 40 years, presenting with abnormal involuntary movements, and those presenting with abnormal liver function. Although not specific, 24­hour urinary copper excretion and serum copper and ceruloplasmin levels are useful screening tests. The single best confirmatory test for the diagnosis is elevated hepatic copper levels, but this requires a liver biopsy; this is performed only in cases in which the diagnosis is unclear but the index of suspicious is high. On neuroimaging, a brain MRI shows atrophy of cerebrum, brainstem, and less commonly cerebellum. The face of the giant panda sign (globus pallidus hypointensity) is a characteristic MRI finding on T2­weighted imaging seen in 34% of cases.

The copper­chelating agent d­penicillaminehas been considered the gold standard of therapy. In patients who cannot tolerate penicillamine, trientine, another copper­chelating agent, has been used. In patients with cirrhosis or fulminant hepatic failure, liver transplantation is the only option.