Master Wilson's Disease Symptoms with Picmonic for Medicine

Toxic accumulation of copper in the liver produces reactive oxygen species leading to liver damage. Chronic inflammation of the liver can predispose individuals to develop hepatocellular carcinoma.

In the brain, toxic copper accumulation primarily affects the basal ganglia, especially the putamen, leading to neuronal degeneration and gliosis. Damage to these motor control centers results in various movement disorders, including dystonia, tremors, chorea, and rigidity. The involvement of the basal ganglia can also cause a Parkinson disease-like syndrome, characterized by bradykinesia, rigidity, and postural instability. In addition to motor dysfunction, copper toxicity contributes to neuropsychiatric manifestations such as personality changes, depression, cognitive impairment, and, in severe cases, psychosis. MRI findings in Wilson disease often show characteristic "face of the giant panda" and basal ganglia hyperintensities, reflecting copper-induced damage.

Toxic accumulation of copper in the brain can lead to early-onset dementia in patients with Wilson disease, often accompanied by psychiatric symptoms (such as depression, personality changes, and psychosis), movement disorders (including dystonia, tremors, and parkinsonism), and cognitive impairment. This occurs due to defective hepatic copper excretion caused by ATP7B gene mutations, leading to excessive copper deposition in the basal ganglia and other brain regions.

Dyskinesia is a movement disorder characterized by involuntary movements (such as tremors, chorea, dystonia, and rigidity) and diminished voluntary movements (bradykinesia). It is a common neuropsychiatric manifestation of Wilson disease, resulting from toxic copper accumulation in the basal ganglia. Patients with Wilson disease may exhibit parkinsonian features, orofacial dyskinesia, and gait disturbances, often alongside psychiatric symptoms such as depression, anxiety, and cognitive impairment.

Asterixis refers to a jerking tremor of the hand that is apparent when the wrist is extended, commonly called a flapping tremor. It can be a sign of hepatic encephalopathy and a feature of Wilsons disease.

Almost all patients with neurologic involvement in Wilson disease develop characteristic eye lesions in the cornea called Kayser-Fleischer (KF) rings, which are brownish-green deposits of copper in Descemet’s membrane. These rings are best visualized using slit-lamp examination and serve as a key diagnostic feature of Wilson disease. While commonly associated with neurological symptoms, KF rings may also appear in asymptomatic patients or those with hepatic involvement. Their presence strongly suggests copper accumulation and helps differentiate Wilson disease from other movement disorders

Kayser-Fleischer (KF) rings can be detected by slit-lamp examination, which consists of a high-intensity light source focused to shine a thin sheet of light into the eye, allowing detailed visualization of the corneal layers. These brownish-green copper deposits accumulate in Descemet’s membrane and are most prominent at the superior and inferior corneal margins. Slit-lamp examination is crucial for diagnosing Wilson disease, especially in patients with neurological symptoms, as KF rings may be absent in early hepatic disease. Their presence strongly suggests copper accumulation and aids in distinguishing Wilson disease from other disorders.

The production of reactive oxygen species (ROS) due to excess free copper in the blood can lead to hemolytic anemia by causing oxidative damage to red blood cell (RBC) membranes. This results in increased RBC fragility, leading to their premature destruction (intravascular hemolysis). Hemolytic anemia in Wilson disease is typically Coombs-negative and may present as an acute episode, sometimes preceding hepatic or neurological symptoms. The release of free hemoglobin from lysed RBCs can further contribute to oxidative stress, exacerbating liver dysfunction and worsening copper toxicity.