Question

Evaluation of a 10-year-old child with suspected Wilson's disease

Hint:

In patients with suspected Wilson's disease, a slit lamp examination for Kayser-Fleischer rings is an essential part of the evaluation.

Answer 1

Step 1: Understanding Wilson's disease.
Wilson's disease is a genetic disorder in which copper accumulates in the liver, brain, and other organs. It leads to a variety of symptoms, including liver dysfunction, neurological symptoms (such as tremors, dystonia, and dysarthria), and psychiatric disturbances. It typically presents in childhood or adolescence.

Step 2: Initial Evaluation.
- Clinical History: A detailed history of the child's symptoms should be taken. Key signs include hepatomegaly, jaundice, or unexplained neurological or psychiatric symptoms. A family history of Wilson's disease is also significant.
- Neurological Symptoms: Look for signs of basal ganglia involvement, such as tremors, dystonia, or a characteristic gait disturbance. Psychiatric symptoms may include depression, personality changes, or cognitive decline.

Step 3: Diagnostic Tests.
- Serum Ceruloplasmin: Decreased levels of ceruloplasmin are commonly seen in Wilson's disease. However, levels can be normal in some cases, especially in younger children.
- 24-hour Urinary Copper Excretion: This is a key diagnostic test. Elevated urinary copper excretion (>100 µg/24 hours) is suggestive of Wilson's disease.
- Slit Lamp Examination: A slit lamp examination can reveal Kayser-Fleischer rings, which are copper deposits in the cornea. This is a characteristic finding in Wilson's disease.
- Liver Function Tests: Elevated liver enzymes, bilirubin, and low albumin may indicate hepatic involvement, which is common in Wilson's disease.
- Genetic Testing: Identification of mutations in the ATP7B gene can confirm the diagnosis.

Step 4: Conclusion.
Early diagnosis of Wilson's disease is important for the prevention of irreversible liver and neurological damage. Treatment with chelating agents like penicillamine or zinc can help reduce copper levels and improve symptoms.